Canonical Allele Identifier: PA253068
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4300
ClinVar RCV Id: RCV000004539 RCV001572837
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005741.1:p.Lys196Gln
CA253067
NM_001005741.2:c.586A>C