Canonical Allele Identifier: PA245986
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 197702
ClinVar RCV Id: RCV000178814 RCV001249027 RCV001808455 RCV004020131
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005741.1:p.Ser146Leu
CA245985
NM_001005741.2:c.437C>T