ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828736481
Gene: CCDC78
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1445500
ClinVar RCV Id:
RCV001992613
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364962.1:p.Ala168Val
CA276519712
NM_001378033.1:c.503C>T