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: PA2580222766

Gene: KIF1B HGNC NCBI

Linked Data

ClinVar Variation Id: 1777207

ClinVar RCV Id: RCV003100771 RCV004059709

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001352881.1:p.Thr596Ile	CA17813567 NM_001365952.1:c.1787C>T