ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573076514
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000623154
RCV000995793
RCV001069786
ClinVar Variation:
521695
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366560.1:p.Arg995His
CA2207986
NM_001379631.1:c.2984G>A