ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828865953
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
335258
ClinVar RCV Id:
RCV000292157
RCV000503252
RCV001085849
RCV000827544
RCV002519958
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366571.1:p.Pro1593Leu
CA2207300
NM_001379642.1:c.4778C>T