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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:
CA385813496
Gene: BBS10
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr12:g.76740820T>A (hg19)
chr12:g.76347040T>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.76347040T>A , CM000674.2:g.76347040T>A
GRCh38
NC_000012.11:g.76740820T>A , CM000674.1:g.76740820T>A
GRCh37
NC_000012.10:g.75264951T>A
NCBI36
NG_016357.1:g.6403A>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000650064.2:c.945A>T
MANE Select
ENSP00000497413.1:p.Gln315His
ENST00000393262.3:c.945A>T
ENSP00000376946.3:p.Gln315His
NM_024685.3:c.945A>T
NP_078961.3:p.Gln315His
NM_024685.4:c.945A>T
MANE Select
NP_078961.3:p.Gln315His
Search 100 bp 5'
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