ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828736330
Gene: CCDC78
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364960.1:p.Arg347Gln
CA7789113
NM_001378031.1:c.1040G>A