ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828866481
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000326247
RCV000803981
RCV001078149
RCV001808727
ClinVar Variation:
280500
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366574.1:p.Arg254Gln
CA10602852
NM_001379645.1:c.761G>A