ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825354596
Gene: CCDC78
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1349222
ClinVar RCV Id:
RCV002051003
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026907.2:p.Gly353Ser
CA7789271
NM_001031737.3:c.1057G>A