Canonical Allele Identifier: PA177850
Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 36767
ClinVar RCV Id: RCV000058831 RCV000151805 RCV000248707 RCV000852966 RCV001081940 RCV001149157 RCV001149158 RCV001149159 RCV001149161 RCV001149160 RCV001149162 RCV001841553 RCV003224111
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000326.2:p.Ser216Leu
CA019682
NM_000335.5:c.647C>T