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: PA2828192246

Gene: KIF1B HGNC NCBI

Linked Data

ClinVar Variation Id: 2625688

ClinVar RCV Id: RCV004366404

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001352880.1:p.Ser722Pro	CA338332337 NM_001365951.3:c.2164T>C