ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828872804
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
211290
ClinVar RCV Id:
RCV000192849
RCV001088066
RCV000766570
RCV001847864
RCV004020320
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366578.1:p.Ser1502Leu
CA205958
NM_001379649.1:c.4505C>T