ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828086547
Gene: CCM2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2742291
ClinVar RCV Id:
RCV003497596
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350387.1:p.Ile163Val
CA367430229
NM_001363458.2:c.487A>G