ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828858527
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000523796
RCV001087401
RCV002314914
RCV004541632
ClinVar Variation:
451113
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366567.1:p.Asp1218Asn
CA2207576
NM_001379638.1:c.3652G>A