Canonical Allele Identifier: PA2580456894
Gene: GNPTAB HGNC NCBI

Linked Data

ClinVar Variation Id: 2258828
ClinVar RCV Id: RCV002773008

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077288.2:p.Tyr404Ser
CA386302586
NM_024312.5:c.1211A>C