Canonical Allele Identifier: PA094217
Gene: GBA1 HGNC NCBI
ClinVar RCV:
RCV000004563
ClinVar Variation:
4319
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000148.2:p.Cys381Gly
CA253094
NM_000157.4:c.1141T>G