Canonical Allele Identifier: PA2826254136
Gene: GALC HGNC NCBI

Linked Data

ClinVar Variation Id: 370073
ClinVar RCV Id: RCV000410159 RCV001093133
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001188330.1:p.Thr506Met
CA7296976
NM_001201401.2:c.1517C>T