ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA233638
Gene: CCDC39
HGNC
NCBI
Linked Data
ClinVar Variation Id:
166806
ClinVar RCV Id:
RCV000250032
RCV000827145
RCV001082090
RCV001145787
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_852091.1:p.Thr358Ile
CA233637
NM_181426.2:c.1073C>T