ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916043720
Gene: CCM2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350387.1:p.Thr447Met
CA4247287
NM_001363458.2:c.1340C>T