ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826590582
Gene: ACTN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
216494
ClinVar RCV Id:
RCV000199774
RCV002503782
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001265273.1:p.Ser677Pro
CA338853
NM_001278344.2:c.2029T>C