Canonical Allele Identifier: PA2826254284
Gene: GALC HGNC NCBI

Linked Data

ClinVar Variation Id: 208291
ClinVar RCV Id: RCV000206966 RCV001093132 RCV001824669 RCV004020301
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001188330.1:p.Val658Met
CA350966
NM_001201401.2:c.1972G>A