ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828871032
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000192849
RCV000766570
RCV001088066
RCV001847864
RCV004020320
ClinVar Variation:
211290
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366577.1:p.Ser1527Leu
CA205958
NM_001379648.1:c.4580C>T