Canonical Allele Identifier: PA1139680268
Gene: GALC HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000144.2:p.Trp131Arg
CA7297399
NM_000153.4:c.391T>C
CA390752555
NM_000153.4:c.391T>A