ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828847564
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
391694
ClinVar RCV Id:
RCV000441720
RCV000706002
RCV002522645
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366561.1:p.Val1037Met
CA2207892
NM_001379632.1:c.3109G>A