ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA098982
Gene: KIF5A
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_004975.2:p.Arg280His
NM_004984.4:c.839G>A