ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828086730
Gene: CCM2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350388.1:p.Ser396Leu
CA4247294
NM_001363459.2:c.1187C>T