ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830059580
Gene: CCM2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_113631.1:p.Leu198Pro
CA367430442
NM_031443.4:c.593T>C