Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA658677954

Gene: KBTBD13 HGNC NCBI

Linked Data

ClinVar Variation Id: 464364

ClinVar RCV Id: RCV000527631

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001094832.1:p.Arg326Pro	CA392864822 NM_001101362.3:c.977G>C