ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139752420
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
987810
ClinVar RCV Id:
RCV001269146
RCV001701311
RCV001880173
RCV002402807
RCV004004938
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_932173.1:p.Arg53Trp
CA72951821
NM_198056.3:c.157C>T