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: PA2825495294

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 67796

ClinVar RCV Id: RCV000058570 RCV000183036 RCV002477201

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001092875.1:p.Glu1138Ala	CA017144 NM_001099405.2:c.3413A>C