ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828847806
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000194715
RCV001062486
RCV002317694
ClinVar Variation:
211286
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366561.1:p.Val1283Met
CA209076
NM_001379632.1:c.3847G>A