ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828850505
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
211298
ClinVar RCV Id:
RCV000195049
RCV000236782
RCV000818660
RCV001391603
RCV001847866
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366563.1:p.Ser274Leu
CA209610
NM_001379634.1:c.821C>T