ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828846356
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
280500
ClinVar RCV Id:
RCV000326247
RCV000803981
RCV001078149
RCV001808727
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366561.1:p.Arg254Gln
CA10602852
NM_001379632.1:c.761G>A