Allele Registry

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.

Canonical Allele Identifier: PA111575

Gene: SOX10 HGNC NCBI

Linked Data

ClinVar Variation Id: 7408

ClinVar RCV Id: RCV000007833 RCV002273922

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_008872.1:p.Ala157Val	CA118779 NM_006941.4:c.470C>T