ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA133151
Gene: ACTN2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001094.1:p.Met604Val
CA133150
NM_001103.4:c.1810A>G