ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645380395
Gene: CCDC39
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_852091.1:p.Thr594Ile
CA2715875
NM_181426.2:c.1781C>T