ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580153746
Gene: ACTN1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001123477.1:p.Arg752Pro
CA390181573
NM_001130005.2:c.2255G>C