ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828735960
Gene: CCDC78
HGNC
NCBI
Linked Data
ClinVar Variation Id:
473258
ClinVar RCV Id:
RCV000544640
RCV004024231
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364959.1:p.Arg123Gln
CA7789636
NM_001378030.1:c.368G>A