ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA279399
Gene: CC2D2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
217594
ClinVar RCV Id:
RCV000201598
RCV003765301
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073991.2:p.Val1430Ala
CA279397
NM_001080522.2:c.4289T>C