Canonical Allele Identifier: PA108239
Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 67833
ClinVar RCV Id: RCV000058610 RCV000171772 RCV000151781 RCV000417329 RCV001147537 RCV000845318 RCV001842352 RCV002354250 RCV003224134
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_932173.1:p.Phe1293Ser
CA017579
NM_198056.3:c.3878T>C