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: PA2573204886

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1685088

ClinVar RCV Id: RCV002248180

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Pro1844Leu	CA349065582 NM_001353948.2:c.5531C>T