Canonical Allele Identifier: PA2580456900
Gene: GNPTAB HGNC NCBI

Linked Data

ClinVar Variation Id: 2057422
ClinVar RCV Id: RCV002941986

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077288.2:p.Met410Ile
CA6746679
NM_024312.5:c.1230G>C
CA386302515
NM_024312.5:c.1230G>T
CA386302516
NM_024312.5:c.1230G>A