ClinGen Allele Registry
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Canonical Allele Identifier:
PA181483
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67920
ClinVar RCV Id:
RCV000058701
RCV000154836
RCV001289206
RCV001842368
RCV004019052
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_932173.1:p.Arg1583Cys
CA018516
NM_198056.3:c.4747C>T