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: PA916036626

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 194721

ClinVar RCV Id: RCV000188914 RCV000515245 RCV000724750 RCV001444749 RCV001132318 RCV002336423

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340890.1:p.Ala347Thr	CA240854 NM_001353961.2:c.1039G>A