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: PA2827790168

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 206784

ClinVar RCV Id: RCV000188892

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340890.1:p.Val43Ile	CA317299 NM_001353961.2:c.127G>A