ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827299223
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000437574
RCV000527406
RCV000764389
RCV002328908
ClinVar Variation:
377000
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317219.1:p.Arg1629His
CA2207179
NM_001330290.2:c.4886G>A