ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825943929
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1441990
ClinVar RCV Id:
RCV003657523
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153633.1:p.Pro648Ser
CA352145111
NM_001160161.2:c.1942C>T