ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645496232
Gene: CCM2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000248409
RCV000625099
RCV001706363
ClinVar Variation:
261965
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001025006.1:p.Val74Ile
CA4246881
NM_001029835.2:c.220G>A