Canonical Allele Identifier: PA098624
Gene: GALNS HGNC NCBI
ClinVar Allele:
15748
ClinVar RCV:
RCV000000744
RCV000723452
ClinVar Variation:
709
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000503.1:p.Ser162Phe
CA251571
NM_000512.5:c.485C>T