Canonical Allele Identifier: PA2826089139
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_001165283.1:p.Val342Leu
CA221384
NM_001171812.2:c.1024G>C
CA342715134
NM_001171812.2:c.1024G>T