ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827294715
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
246249
ClinVar RCV Id:
RCV000236475
RCV000529826
RCV000716737
RCV000767159
RCV001143565
RCV002518454
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317218.1:p.Asp555Asn
CA2208322
NM_001330289.2:c.1663G>A