ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825943998
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
423924
ClinVar RCV Id:
RCV000482322
RCV001841399
RCV002420242
RCV002481535
RCV003766725
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153633.1:p.Arg693Cys
CA059716
NM_001160161.2:c.2077C>T