ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828851818
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000418762
RCV000500845
RCV001324698
RCV002524723
ClinVar Variation:
377159
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366563.1:p.Asp1599Glu
CA2207237
NM_001379634.1:c.4797C>G
CA2207238
NM_001379634.1:c.4797C>A