ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828860187
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000488364
RCV000793899
RCV001262976
ClinVar Variation:
425262
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366568.1:p.Arg1105Trp
CA2207730
NM_001379639.1:c.3313C>T