ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827295263
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
435628
ClinVar RCV Id:
RCV000502828
RCV000556446
RCV002280122
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317218.1:p.Ser943Leu
CA2207901
NM_001330289.2:c.2828C>T