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: PA2825538768

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 919433

ClinVar RCV Id: RCV001842695 RCV003658331

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001092874.1:p.Asp1163Tyr	CA72923946 NM_001099404.2:c.3487G>T