ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580417878
Gene: CCDC40
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060420.2:p.Lys347Arg
CA8813660
NM_017950.4:c.1040A>G