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: PA2499251692

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1175963

ClinVar RCV Id: RCV001531323

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340890.1:p.Lys443_Val444del	CA2499215174 NM_001353961.2:c.1327_1332del