Canonical Allele Identifier: PA145803
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_000144.2:p.Thr468Ser
CA145802
NM_000153.4:c.1403C>G
CA390746548
NM_000153.4:c.1402A>T