ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827739172
Gene: ACTMAP
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340738.1:p.Thr165Met
CA9451278
NM_001353809.2:c.494C>T