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: PA2827755169

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68662

ClinVar RCV Id: RCV000059542 RCV000193290 RCV000478850

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Trp1812Gly	CA206668 NM_001353948.2:c.5434T>G