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: PA2825495975

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 67863

ClinVar RCV Id: RCV000058642

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001092875.1:p.Asn1380Lys	CA017900 NM_001099405.2:c.4140C>G CA352146767 NM_001099405.2:c.4140C>A