ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826589329
Gene: ACTN2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001265273.1:p.Pro125Arg
CA345380521
NM_001278344.2:c.374C>G