ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828870453
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
245637
ClinVar RCV Id:
RCV000338157
RCV000423040
RCV001084584
RCV001252531
RCV001820786
RCV001848020
RCV004020917
RCV004532977
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366577.1:p.Val953Met
CA2207905
NM_001379648.1:c.2857G>A