ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825944017
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2774473
ClinVar RCV Id:
RCV003592355
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153633.1:p.Lys711Arg
CA352144703
NM_001160161.2:c.2132A>G