Allele Registry

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Canonical Allele Identifier: PA2826254295

Gene: GALC HGNC NCBI

Linked Data

ClinVar Variation Id: 2704425

ClinVar RCV Id: RCV003503563

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001188330.1:p.Arg662_Ter663insTyrTyrLeuThrGlyHisHisArgIleLeuTrpIlePhePheProSerPheTrpPheTrpPheArgAlaAsnSerCysPheIleGlyThrValTyrGluAlaPheGluThrLysAsnAsnGluGlu	CA390745067 NM_001201401.2:c.1989A>T CA390745068 NM_001201401.2:c.1989A>C