ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828736512
Gene: CCDC78
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364962.1:p.Arg216Gln
CA7789117
NM_001378033.1:c.647G>A