Canonical Allele Identifier: PA2573163067
Gene: GALC HGNC NCBI

Linked Data

ClinVar Variation Id: 1360066
ClinVar RCV Id: RCV001904694
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000144.2:p.Pro499Leu
CA390746331
NM_000153.4:c.1496C>T