ClinGen Allele Registry
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Canonical Allele Identifier:
PA916010284
Gene: ACTN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
201644
ClinVar RCV Id:
RCV000183267
RCV001203257
RCV002408804
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001265272.1:p.Arg640His
CA335037
NM_001278343.2:c.1919G>A