Canonical Allele Identifier: PA2825067374
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_000144.2:p.Arg685_Ter686insGlnTyrLeuThrGlyHisHisArgIleLeuTrpIlePhePheProSerPheTrpPheTrpPheArgAlaAsnSerCysPheIleGlyThrValTyrGluAlaPheGluThrLysAsnAsnGluGlu
CA390745072
NM_000153.4:c.2056T>C