Canonical Allele Identifier: PA2826254896
Gene: GALC HGNC NCBI

Linked Data

ClinVar Variation Id: 2683272
ClinVar RCV Id: RCV003480092
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001188331.1:p.Arg659Cys
CA7296824
NM_001201402.2:c.1975C>T