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: PA2827783917

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1438229

ClinVar RCV Id: RCV001934229

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340886.1:p.Glu1782Lys	CA349067630 NM_001353957.2:c.5344G>A