ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829528944
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
432401
ClinVar RCV Id:
RCV000498449
RCV000814577
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004312.2:p.Ala1115Thr
CA2207710
NM_004321.8:c.3343G>A