ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825354000
Gene: CCDC78
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026907.2:p.Ala52Val
CA394105485
NM_001031737.3:c.155C>T