Canonical Allele Identifier: PA2499249084
Gene: GALNS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310473.1:p.Trp147Cys
CA397083888
NM_001323544.2:c.441G>T
CA397083892
NM_001323544.2:c.441G>C