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: PA2825497107

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 9382

ClinVar RCV Id: RCV000009979 RCV000009980 RCV001530164

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001092875.1:p.Tyr1777_Glu1778insAsp	CA025554 NM_001099405.2:c.5331_5333dup