ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573074617
Gene: CCDC78
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000516842
RCV000650516
ClinVar Variation:
447011
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364959.1:p.Ala325Pro
CA7789312
NM_001378030.1:c.973G>C