ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580143331
Gene: KBTBD13
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2159714
ClinVar RCV Id:
RCV003087443
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001094832.1:p.Asp234Asn
CA392862464
NM_001101362.3:c.700G>A