ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA338308
Gene: CC2D2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
216491
ClinVar RCV Id:
RCV000405623
RCV000344416
RCV000350715
RCV001087622
RCV002227457
RCV004530191
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073991.2:p.Glu1016Lys
CA338306
NM_001080522.2:c.3046G>A