ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826326934
Gene: CCDC40
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230271.1:p.Gln171Lys
CA401348814
NM_001243342.2:c.511C>A