ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828786541
Gene: CC2D2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
126228
ClinVar RCV Id:
RCV000114164
RCV000423044
RCV001082503
RCV001149500
RCV001149501
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365546.1:p.Lys458Glu
CA150849
NM_001378617.1:c.1372A>G