ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645424900
Gene: CCDC40
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060420.2:p.Val490Met
CA8813854
NM_017950.4:c.1468G>A