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: PA2826348373

Gene: KIF1A HGNC NCBI

Linked Data

ClinVar Variation Id: 421138

ClinVar RCV Id: RCV000481549

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001230937.1:p.Arg13Ser	CA16617514 NM_001244008.2:c.37C>A