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: PA2828873115

Gene: KIF1A HGNC NCBI

Linked Data

ClinVar Variation Id: 422856

ClinVar RCV Id: RCV000486539

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001366579.1:p.Tyr74_Arg75insAsp	CA16617513 NM_001379650.1:c.222_223insGAC