ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828862132
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
532872
ClinVar RCV Id:
RCV000639796
RCV002325243
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366569.1:p.Glu1272Lys
CA68141126
NM_001379640.1:c.3814G>A