ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828736472
Gene: CCDC78
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1491006
ClinVar RCV Id:
RCV001986215
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364962.1:p.Gln162Arg
CA7789299
NM_001378033.1:c.485A>G