ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825944431
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000058543
RCV000155885
RCV000766795
RCV000987213
RCV001145176
RCV001145177
RCV001145178
RCV001149459
RCV001149460
RCV001842325
RCV002433565
ClinVar Variation:
67772
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153633.1:p.Cys1004Arg
CA016748
NM_001160161.2:c.3010T>C