ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658831421
Gene: CCM2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001025006.1:p.Leu216Arg
CA367430423
NM_001029835.2:c.647T>G