ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828735973
Gene: CCDC78
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364959.1:p.His142Arg
CA7789624
NM_001378030.1:c.425A>G