ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827293927
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2073219
ClinVar RCV Id:
RCV002971716
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317218.1:p.Arg75Gln
CA351310871
NM_001330289.2:c.224G>A