ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825942629
Gene: SCN5A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
24428
ClinVar RCV:
RCV000009987
RCV000058786
RCV000148848
RCV000154827
RCV000619902
RCV000766811
RCV001841236
RCV002476953
ClinVar Variation:
9389
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153632.1:p.Arg1793His
CA019280
NM_001160160.2:c.5378G>A