ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827294174
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000191020
RCV000207243
RCV001255726
RCV001269905
RCV001389787
RCV001796966
RCV002514079
ClinVar Variation:
208160
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317218.1:p.Arg216Cys
CA204974
NM_001330289.2:c.646C>T