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: PA120365

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 9395

ClinVar RCV Id: RCV000009995 RCV000009996 RCV000009997 RCV000058649 RCV000183190 RCV002326672 RCV002496318 RCV003996085

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000326.2:p.Gly1407Arg	CA017985 NM_000335.5:c.4219G>A CA352146220 NM_000335.5:c.4219G>C