ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645496420
Gene: CCM2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001025006.1:p.Ser437Ala
CA16605225
NM_001029835.2:c.1309T>G