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: PA265349

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 67827

ClinVar RCV Id: RCV000058603

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001092874.1:p.Trp1271Cys	CA017524 NM_001099404.2:c.3813G>C CA352148951 NM_001099404.2:c.3813G>T