ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828848187
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
532868
ClinVar RCV Id:
RCV000639789
RCV000764393
RCV001143357
RCV001334235
RCV001811132
RCV002334103
RCV003338706
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366561.1:p.Glu1629Lys
CA2207251
NM_001379632.1:c.4885G>A