ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA240851
Gene: CC2D2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
194715
ClinVar RCV Id:
RCV000724892
RCV000765755
RCV001147083
RCV001147084
RCV001479910
RCV004020077
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073991.2:p.Glu613Lys
CA240849
NM_001080522.2:c.1837G>A