ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828848241
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000489290
RCV000700081
RCV000764390
ClinVar Variation:
426987
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366561.1:p.Val1669Ile
CA2207190
NM_001379632.1:c.5005G>A