ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827295152
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
218551
ClinVar RCV Id:
RCV000202975
RCV001236114
RCV002433897
RCV003324729
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317218.1:p.Arg878Cys
CA249179
NM_001330289.2:c.2632C>T