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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
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Canonical Allele Identifier:
CA386981146
Gene: ORAI1
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr12:g.122064930T>G (hg19)
chr12:g.121627024T>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.121627024T>G , CM000674.2:g.121627024T>G
GRCh38
NC_000012.11:g.122064930T>G , CM000674.1:g.122064930T>G
GRCh37
NC_000012.10:g.120549313T>G
NCBI36
NG_007500.1:g.5450T>G , LRG_93:g.5450T>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000698901.1:n.425+91T>G
ENST00000617316.2:c.277T>G
ENSP00000482568.2:p.Ser93Ala
ENST00000646827.1:n.475T>G
ENST00000611718.1:c.88T>G
ENSP00000477953.1:p.Ser30Ala
ENST00000616379.1:c.277T>G
ENSP00000480616.1:p.Ser93Ala
ENST00000617316.1:c.88T>G
ENSP00000482568.1:p.Ser30Ala
NM_032790.3:c.277T>G , LRG_93t1:c.277T>G
NP_116179.2:p.Ser93Ala
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