Canonical Allele Identifier: PA2825067376
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_000144.2:p.Arg685_Ter686insTyrTyrLeuThrGlyHisHisArgIleLeuTrpIlePhePheProSerPheTrpPheTrpPheArgAlaAsnSerCysPheIleGlyThrValTyrGluAlaPheGluThrLysAsnAsnGluGlu
CA390745067
NM_000153.4:c.2058A>T
CA390745068
NM_000153.4:c.2058A>C