ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573179265
Gene: KBTBD13
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1429010
ClinVar RCV Id:
RCV001938710
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001094832.1:p.Tyr261Cys
CA271504040
NM_001101362.3:c.782A>G