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: PA211861

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 67693

ClinVar RCV Id: RCV000058457 RCV000148861 RCV000413033 RCV000779409 RCV001842300 RCV002477195 RCV004019039 RCV004537259

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001092874.1:p.Leu619Phe	CA015443 NM_001099404.2:c.1855C>T