ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139714171
Gene: KIF5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
940374
ClinVar RCV Id:
RCV001209948
RCV001847190
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004975.2:p.Ser291Phe
CA385500637
NM_004984.4:c.872C>T