ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827924735
Gene: KIF5A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000030760
RCV000168349
RCV001196631
RCV001682718
RCV002468980
ClinVar Variation:
37129
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341634.1:p.Arg115Gln
CA130087
NM_001354705.2:c.344G>A