Canonical Allele Identifier: PA353732
Gene: GALT HGNC NCBI

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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_000146.2:p.Leu264Ter
NM_000155.4:c.[790del;792_793insG]

NM_000155.4:c.[790del;793C>A]

NM_000155.4:c.[790del;793C>G]

NM_000155.4:c.790_792delinsTAG