ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573074646
Gene: CCDC78
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364960.1:p.Pro122Leu
CA7789638
NM_001378031.1:c.365C>T