Canonical Allele Identifier: PA2827194217
Gene: GALNS HGNC NCBI
ClinVar RCV:
RCV000000740
ClinVar Variation:
705
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310473.1:p.Arg100Gly
CA251568
NM_001323544.2:c.298C>G