ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828852044
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
191158
ClinVar RCV Id:
RCV000171342
RCV000626085
RCV000639785
RCV001391594
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366564.1:p.Arg75Trp
CA236139
NM_001379635.1:c.223C>T