Canonical Allele Identifier: PA2826254698
Gene: GALC HGNC NCBI

Linked Data

ClinVar Variation Id: 92495
ClinVar RCV Id: RCV000078192 RCV000538364 RCV000428446 RCV003944993
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001188331.1:p.Thr442Ser
CA145802
NM_001201402.2:c.1325C>G
CA390746548
NM_001201402.2:c.1324A>T