Canonical Allele Identifier: PA2826254293
Gene: GALC HGNC NCBI

Linked Data

ClinVar Variation Id: 1066870
ClinVar RCV Id: RCV001377987
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001188330.1:p.Arg662_Ter663insGlnTyrLeuThrGlyHisHisArgIleLeuTrpIlePhePheProSerPheTrpPheTrpPheArgAlaAsnSerCysPheIleGlyThrValTyrGluAlaPheGluThrLysAsnAsnGluGlu
CA390745072
NM_001201401.2:c.1987T>C