ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658676796
Gene: CCDC78
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000534408
RCV001755887
ClinVar Variation:
473257
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026907.2:p.Pro122Leu
CA7789638
NM_001031737.3:c.365C>T