ClinGen Allele Registry
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Canonical Allele Identifier:
PA177806
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000058539
RCV000151788
RCV000724184
RCV000845398
RCV000852549
RCV001145287
RCV001149576
RCV001149577
RCV001149578
RCV001149579
RCV001149580
RCV001842322
RCV002433564
RCV004537260
ClinVar Variation:
67769
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092874.1:p.Cys982Arg
CA016652
NM_001099404.2:c.2944T>C