ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580138244
Gene: CCDC78
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026907.2:p.Thr436Arg
CA7789056
NM_001031737.3:c.1307C>G