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: PA2827297004

Gene: KIF1A HGNC NCBI

Linked Data

ClinVar Variation Id: 974921

ClinVar RCV Id: RCV001251230

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317219.1:p.Ser252Arg	CA351303160 NM_001330290.2:c.756C>G CA351303167 NM_001330290.2:c.756C>A CA351303192 NM_001330290.2:c.754A>C