Canonical Allele Identifier: PA246604
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 198110
ClinVar RCV Id: RCV000179352 RCV003323429
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005741.1:p.Met162Thr
CA246603
NM_001005741.2:c.485T>C