ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA153248
Gene: KBTBD13
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001094832.1:p.Gly265Asp
NM_001101362.3:c.794G>A