ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827318080
Gene: CCDC40
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317437.1:p.Gln171Lys
CA401348814
NM_001330508.2:c.511C>A