This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: GALC HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000144.2:p.Phe244Leu
CA390749321
NM_000153.4:c.732C>G
CA390749322
NM_000153.4:c.732C>A
CA390749336
NM_000153.4:c.730T>C