ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827296392
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
426987
ClinVar RCV Id:
RCV000700081
RCV000489290
RCV000764390
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317218.1:p.Val1594Ile
CA2207190
NM_001330289.2:c.4780G>A