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: PA265683

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 67927

ClinVar RCV Id: RCV000058710 RCV000987240 RCV001699194 RCV002336213

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000326.2:p.Glu161Lys	CA018588 NM_000335.5:c.481G>A