ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827295506
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
464229
ClinVar RCV Id:
RCV000539405
RCV000712147
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317218.1:p.Ser1108Leu
CA2207739
NM_001330289.2:c.3323C>T