ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825494120
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
972689
ClinVar RCV Id:
RCV001248781
RCV001253388
RCV001841195
RCV003658785
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092875.1:p.Arg693Leu
CA352144827
NM_001099405.2:c.2078G>T