ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828086499
Gene: CCM2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350387.1:p.Val53Ile
CA4246881
NM_001363458.2:c.157G>A