ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828855455
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000236433
RCV000691779
RCV002338768
ClinVar Variation:
245691
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366565.1:p.Ala1660Thr
CA10584187
NM_001379636.1:c.4978G>A