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: PA2825942712

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 965989

ClinVar RCV Id: RCV002290656

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001153632.1:p.Glu1844del	CA352140560 NM_001160160.2:c.5530G>T CA352140574 NM_001160160.2:c.5527G>T CA1358556507 NM_001160160.2:c.5530_5532del