ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573076513
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
218551
ClinVar RCV Id:
RCV000202975
RCV001236114
RCV002433897
RCV003324729
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366560.1:p.Arg995Cys
CA249179
NM_001379631.1:c.2983C>T