ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827299269
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000719407
RCV000757422
RCV001088413
RCV001141523
RCV004541687
ClinVar Variation:
464259
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317219.1:p.Val1652Met
CA2207162
NM_001330290.2:c.4954G>A