ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827739152
Gene: ACTMAP
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340734.1:p.Pro20Leu
CA9451296
NM_001353805.2:c.59C>T