ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825342639
Gene: CCM2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3139758
ClinVar RCV Id:
RCV004430582
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001025006.1:p.Pro123Ala
CA367429830
NM_001029835.2:c.367C>G