Canonical Allele Identifier: PA2826089305
Gene: GBA1 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001165283.1:p.Ala438Thr
CA10581616
NM_001171812.2:c.1312G>A