ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826590061
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_001265273.1:p.Arg432His
CA335037
NM_001278344.2:c.1295G>A