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: PA2825941976

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 2705459

ClinVar RCV Id: RCV003575410

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001153632.1:p.Lys1380Asn	CA352146746 NM_001160160.2:c.4140G>T CA352146748 NM_001160160.2:c.4140G>C