ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741829017
Gene: KBTBD13
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2968677
ClinVar RCV Id:
RCV003829323
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001094832.1:p.Val288Met
CA392864082
NM_001101362.3:c.862G>A