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: PA2827923679

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 67953

ClinVar RCV Id: RCV000058738 RCV000497811

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341630.1:p.Ala1679Thr	CA018875 NM_001354701.2:c.5035G>A