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Canonical Allele Identifier: Get Identifier
Gene: GALC HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011534920.1:p.Arg629_Ter630insGlnTyrLeuThrGlyHisHisArgIleLeuTrpIlePhePheProSerPheTrpPheTrpPheArgAlaAsnSerCysPheIleGlyThrValTyrGluAlaPheGluThrLysAsnAsnGluGlu
CA390745072
XM_011536618.2:c.1888T>C