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: PA2825497222

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 629785

ClinVar RCV Id: RCV001841960

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001092875.1:p.Met1820Lys	CA352140951 NM_001099405.2:c.5459T>A