ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828858378
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
532859
ClinVar RCV Id:
RCV000639777
RCV003987636
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366567.1:p.Ser1078Asn
CA2207780
NM_001379638.1:c.3233G>A