Canonical Allele Identifier: PA2573175785
Gene: GBA1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005742.1:p.Glu272Asp
CA342720382
NM_001005742.2:c.816A>T
CA342720383
NM_001005742.2:c.816A>C