Canonical Allele Identifier: PA221412
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 93459
ClinVar RCV Id: RCV000589250 RCV001004128 RCV000675275 RCV002468565 RCV003448261
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005741.1:p.Gly241Arg
CA221411
NM_001005741.2:c.721G>A
CA342721605
NM_001005741.2:c.721G>C