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: PA2827772777

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 373136

ClinVar RCV Id: RCV000413989

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340881.1:p.Cys345Phe	CA16042370 NM_001353952.2:c.1034G>T