ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827295799
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_001317218.1:p.Glu1291Lys
CA68141126
NM_001330289.2:c.3871G>A