ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825940702
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1171660
ClinVar RCV Id:
RCV001842099
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153632.1:p.Phe543Ser
CA352147095
NM_001160160.2:c.1628T>C