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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
Allele Registry
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Canonical Allele Identifier:
CA2580100515
Gene: ARX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1704275
ClinVar RCV Id:
RCV002281622
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.25004808del , CM000685.2:g.25004808del
GRCh38
NC_000023.10:g.25022925del , CM000685.1:g.25022925del
GRCh37
NC_000023.9:g.24932846del
NCBI36
NG_008281.1:g.16142del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000379044.5:c.1552del
MANE Select
ENSP00000368332.4:p.Ala518ProfsTer15
ENST00000379044.4:c.1552del
ENSP00000368332.4:p.Ala518ProfsTer15
NM_139058.2:c.1552del
NP_620689.1:p.Ala518ProfsTer15
NM_139058.3:c.1552del
MANE Select
NP_620689.1:p.Ala518ProfsTer15
Search 100 bp 5'
Search 100 bp 3'