Canonical Allele Identifier: PA093760
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2506226
ClinVar RCV Id: RCV003236457
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000148.2:p.Ala129Thr
CA342726101
NM_000157.4:c.385G>A