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: PA2827767991

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2057676

ClinVar RCV Id: RCV002942053

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340879.1:p.Pro1748Leu	CA349068303 NM_001353950.2:c.5243C>T