ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139744512
Gene: CCDC78
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364960.1:p.Val66Ile
CA7789709
NM_001378031.1:c.196G>A