ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827921930
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67671
ClinVar RCV Id:
RCV000058434
RCV000182979
RCV000490338
RCV001842287
RCV002483110
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341630.1:p.Phe532Cys
CA015051
NM_001354701.2:c.1595T>G