ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825945559
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
844319
ClinVar RCV Id:
RCV001759971
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153633.1:p.Leu1718Pro
CA352141533
NM_001160161.2:c.5153T>C