ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573076577
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
377159
ClinVar RCV Id:
RCV000418762
RCV000500845
RCV001324698
RCV002524723
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366560.1:p.Asp1682Glu
CA2207237
NM_001379631.1:c.5046C>G
CA2207238
NM_001379631.1:c.5046C>A