Canonical Allele Identifier: PA2826687817
Gene: GUSB HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001271219.1:p.Arg431Leu
CA339849
NM_001284290.2:c.1292G>T