ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825491789
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1171332
ClinVar RCV Id:
RCV001842077
RCV003284365
RCV003481115
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092875.1:p.Arg14His
CA352159421
NM_001099405.2:c.41G>A