Canonical Allele Identifier: PA2826253992
Gene: GALC HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001188330.1:p.Ser346Arg
CA390747226
NM_001201401.2:c.1038C>G
CA390747227
NM_001201401.2:c.1038C>A
CA390747232
NM_001201401.2:c.1036A>C