ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827924214
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68027
ClinVar RCV Id:
RCV000058827
RCV000515713
RCV001705714
RCV001842404
RCV002498347
RCV003162461
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341630.1:p.Arg1993Cys
CA019612
NM_001354701.2:c.5977C>T