ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827923570
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67934
ClinVar RCV Id:
RCV000058718
RCV000183089
RCV000252940
RCV000779405
RCV001842372
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341630.1:p.Arg1607His
CA018698
NM_001354701.2:c.4820G>A