ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA307922
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_000326.2:p.Arg2011Cys
CA019612
NM_000335.5:c.6031C>T