ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825943263
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1044046
ClinVar RCV Id:
RCV003770989
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153633.1:p.Arg190Pro
CA352153699
NM_001160161.2:c.569G>C