Canonical Allele Identifier: PA915991783
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 593410
ClinVar RCV Id: RCV000728442 RCV003479208
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001165282.1:p.Ile71Thr
CA342724790
NM_001171811.2:c.212T>C