Canonical Allele Identifier: PA221385
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 93446
ClinVar RCV Id: RCV000180534 RCV000781412 RCV001004119
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005741.1:p.Val391Leu
CA221384
NM_001005741.2:c.1171G>C
CA342715134
NM_001005741.2:c.1171G>T