ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828787743
Gene: CC2D2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
288557
ClinVar RCV Id:
RCV000263818
RCV000765761
RCV001081652
RCV004543114
RCV002521992
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365546.1:p.Ile1144Val
CA2864205
NM_001378617.1:c.3430A>G