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: PA916036481

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 372977

ClinVar RCV Id: RCV000413641

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Leu981Ile	CA16042438 NM_001353948.2:c.2941C>A