Canonical Allele Identifier: PA1139691628
Gene: GALNS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310473.1:p.His172Gln
CA397082973
NM_001323544.2:c.516C>G
CA397082976
NM_001323544.2:c.516C>A