ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826050998
Gene: CCM2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1054801
ClinVar RCV Id:
RCV001363376
RCV003246944
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001161407.1:p.Glu54Lys
CA4246883
NM_001167935.1:c.160G>A