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: PA2828855537

Gene: KIF1A HGNC NCBI

Linked Data

ClinVar Variation Id: 426934

ClinVar RCV Id: RCV000489169 RCV001057550 RCV001250737 RCV001568399 RCV003224875

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001366566.1:p.Arg13Cys	CA351315932 NM_001379637.1:c.37C>T