ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916010050
Gene: ACTN2
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001265272.1:p.Gln9Arg
NM_001278343.2:c.26A>G