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: PA2828864652

Gene: KIF1A HGNC NCBI

Linked Data

ClinVar Variation Id: 3064372

ClinVar RCV Id: RCV003988912

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001366571.1:p.Gly251Glu	CA351303203 NM_001379642.1:c.752G>A