ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825945238
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
532081
ClinVar RCV Id:
RCV001841834
RCV003539992
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153633.1:p.Cys1521Tyr
CA352143758
NM_001160161.2:c.4562G>A