Canonical Allele Identifier: PA2826254746
Gene: GALC HGNC NCBI

Linked Data

ClinVar Variation Id: 167119
ClinVar RCV Id: RCV000153296 RCV000174662
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001188331.1:p.Arg505His
CA234058
NM_001201402.2:c.1514G>A