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: PA2827779970

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_001340884.1:p.Lys1245_Val1246del	CA2499215174 NM_001353955.2:c.3733_3738del