ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827053385
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000295121
RCV000533973
RCV001590980
RCV001848685
RCV002436198
RCV004530367
ClinVar Variation:
335271
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307634.1:p.Ala991Thr
CA2207859
NM_001320705.2:c.2971G>A