ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827924858
Gene: KIF5A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000007211
RCV001066186
RCV001175553
RCV003456358
ClinVar Variation:
6809
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341634.1:p.Ala272Val
CA118523
NM_001354705.2:c.815C>T