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: PA2825128819

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 451392

ClinVar RCV Id: RCV000522530 RCV000812828

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000326.2:p.Glu295Lys	CA065839 NM_000335.5:c.883G>A