ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828848650
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
162059
ClinVar RCV Id:
RCV000149481
RCV000488961
RCV000850486
RCV001813759
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366562.1:p.Glu253Lys
CA212633
NM_001379633.1:c.757G>A