ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645476334
Gene: KIF1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000292157
RCV000503252
RCV000827544
RCV001085849
RCV002519958
ClinVar Variation:
335258
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230937.1:p.Pro1593Leu
CA2207300
NM_001244008.2:c.4778C>T