ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827299148
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
464256
ClinVar RCV Id:
RCV000545939
RCV001509203
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317219.1:p.Arg1595His
CA2207234
NM_001330290.2:c.4784G>A