Canonical Allele Identifier: PA101883
Gene: GUSB HGNC NCBI
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000172.2:p.Lys350Asn
CA339853
NM_000181.4:c.1050G>C
CA367644496
NM_000181.4:c.1050G>T