This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: GBA1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000314508.5:p.Asp448His
CA028618
ENST00000327247.9:c.[1342G>C;882T>G]
CA221392
ENST00000327247.9:c.1342G>C