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: PA2825944942

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 67864

ClinVar RCV Id: RCV000058643

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001153633.1:p.Ser1328Ile	CA017913 NM_001160161.2:c.3983G>T