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: PA265372

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 67838

ClinVar RCV Id: RCV000058616 RCV000252945 RCV000505769 RCV000709762 RCV001553760 RCV001842356 RCV002483113

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000326.2:p.Gly1318Val	CA017654 NM_000335.5:c.3953G>T