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: PA2827297009

Gene: KIF1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1486265

ClinVar RCV Id: RCV002003472

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317219.1:p.Glu253Asp	CA351303131 NM_001330290.2:c.759G>T CA351303132 NM_001330290.2:c.759G>C