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: PA2827921580

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 9387

ClinVar RCV Id: RCV000009985 RCV000058858 RCV000151803 RCV000415287 RCV001149036 RCV001149038 RCV001149039 RCV001149035 RCV001149037 RCV001841235 RCV002482852 RCV003137510 RCV004018612

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341630.1:p.Gly298Ser	CA019920 NM_001354701.2:c.892G>A