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: PA2827771984

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2581803

ClinVar RCV Id: RCV003332509

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340880.1:p.Glu1799Gly	CA349067622 NM_001353951.2:c.5396A>G