ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828857000
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
464253
ClinVar RCV Id:
RCV000554693
RCV001136789
RCV001697024
RCV004541685
RCV001848938
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366566.1:p.Arg1462Cys
CA2207376
NM_001379637.1:c.4384C>T