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: PA2580301252

Gene: KIF1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2098196

ClinVar RCV Id: RCV003030819

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_004312.2:p.Gly251Arg	CA351303205 NM_004321.8:c.751G>C CA351303208 NM_004321.8:c.751G>A