Canonical Allele Identifier: PA2827194190
Gene: GALNS HGNC NCBI

Linked Data

ClinVar Variation Id: 93170
ClinVar RCV Id: RCV000079028 RCV001578461
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310472.1:p.Trp335Arg
CA221047
NM_001323543.2:c.1003T>C
CA397092452
NM_001323543.2:c.1003T>A