ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827923121
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67838
ClinVar RCV Id:
RCV000058616
RCV000252945
RCV000505769
RCV000709762
RCV001553760
RCV001842356
RCV002483113
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341630.1:p.Gly1318Val
CA017654
NM_001354701.2:c.3953G>T