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: PA307242

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 67648

ClinVar RCV Id: RCV000058405 RCV000182963 RCV004545744

ClinVar Variation Id: 67649

ClinVar RCV Id: RCV000058406 RCV001256848

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000326.2:p.Asn406Lys	CA014532 NM_000335.5:c.1218C>A CA014540 NM_000335.5:c.1218C>G