Canonical Allele Identifier: PA916026891
Gene: GALNS HGNC NCBI
ClinVar RCV:
RCV000000734
ClinVar Variation:
699
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310473.1:p.Val144Ala
CA251564
NM_001323544.2:c.431T>C