ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645380413
Gene: CCDC39
HGNC
NCBI
Linked Data
ClinVar Variation Id:
228475
ClinVar RCV Id:
RCV000214679
RCV000233515
RCV003417772
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_852091.1:p.Ser625Ile
CA2715852
NM_181426.2:c.1874G>T