Canonical Allele Identifier: PA2580107224
Gene: GALC HGNC NCBI

Linked Data

ClinVar Variation Id: 2060748
ClinVar RCV Id: RCV002947960
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000144.2:p.Glu242Lys
CA264708280
NM_000153.4:c.724G>A