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: PA2827052661

Gene: KIF1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1486265

ClinVar RCV Id: RCV002003472

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001307634.1:p.Glu253Asp	CA351303131 NM_001320705.2:c.759G>T CA351303132 NM_001320705.2:c.759G>C