Canonical Allele Identifier: PA2825494285
Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 48294
ClinVar RCV Id: RCV000041609 RCV000058495 RCV000157485 RCV000201502 RCV001147317 RCV001145376 RCV001147316 RCV001145375 RCV001145377 RCV001147315 RCV001841598 RCV004017338 RCV002223775 RCV003224126
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001092875.1:p.Asp772Asn
CA016059
NM_001099405.2:c.2314G>A