ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828848120
Gene: KIF1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
364120
ClinVar RCV:
RCV000437823
RCV000544072
RCV001848743
RCV002338983
RCV004544732
ClinVar Variation:
377242
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366561.1:p.Arg1583Trp
CA2207302
NM_001379632.1:c.4747C>T