Canonical Allele Identifier: PA2826089327
Gene: GBA1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001165283.1:p.Val450Leu
CA501136
NM_001171812.2:c.1348G>C
CA342710917
NM_001171812.2:c.1348G>T