ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA097317
Gene: CCBE1
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_597716.1:p.Cys75Ser
NM_133459.4:c.223T>A
NM_133459.4:c.224G>C