ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825539483
Gene: ACTN2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001094.1:p.Pro333Arg
CA345380521
NM_001103.4:c.998C>G