ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573074621
Gene: CCDC78
HGNC
NCBI
Linked Data
ClinVar Variation Id:
473249
ClinVar RCV Id:
RCV000554592
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364959.1:p.Gly368Glu
CA7789252
NM_001378030.1:c.1103G>A