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: PA2825497349

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 68001

ClinVar RCV Id: RCV000058795

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001092875.1:p.Lys1854Asn	CA019389 NM_001099405.2:c.5562G>C CA352140620 NM_001099405.2:c.5562G>T