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: PA2827923189

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 899837

ClinVar RCV Id: RCV001144664 RCV001144666 RCV001144665 RCV001144667 RCV001150774 RCV001150773

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341630.1:p.Lys1358Thr	CA352147136 NM_001354701.2:c.4073A>C