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: PA2827783818

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 427057

ClinVar RCV Id: RCV000489977 RCV002526043

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340886.1:p.Gly1729Glu	CA349068318 NM_001353957.2:c.5186G>A