ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580483917
Gene: CCDC54
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_115989.1:p.Phe253Ser
CA353977014
NM_032600.3:c.758T>C