ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573074618
Gene: CCDC78
HGNC
NCBI
Linked Data
ClinVar Variation Id:
473246
ClinVar RCV Id:
RCV000550251
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364959.1:p.His347Tyr
CA7789304
NM_001378030.1:c.1039C>T