Canonical Allele Identifier: PA2573188381
Gene: GALC HGNC NCBI
ClinVar RCV:
RCV001905821
ClinVar Variation:
1386595
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001188330.1:p.Asp49His
CA390771746
NM_001201401.2:c.145G>C