ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA307730
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_932173.1:p.Arg1626His
CA018698
NM_198056.3:c.4877G>A