ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA241123
Gene: CCDC39
HGNC
NCBI
Linked Data
ClinVar Variation Id:
194907
ClinVar RCV Id:
RCV000250356
RCV000724053
RCV001145561
RCV001087266
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_852091.1:p.Ile845Thr
CA241122
NM_181426.2:c.2534T>C