ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA252403
Gene: CCM2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000002805
ClinVar Variation:
2686
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001025006.1:p.Leu219Arg
CA252400
NM_001029835.2:c.656T>G