ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827921189
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67978
ClinVar RCV Id:
RCV000058764
RCV000157474
RCV000212988
RCV000619162
RCV000623091
RCV001146621
RCV000987246
RCV001146622
RCV001146623
RCV001146624
RCV001146625
RCV001842382
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341630.1:p.Arg18Trp
CA019099
NM_001354701.2:c.52C>T