Canonical Allele Identifier: PA093971
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4295
ClinVar RCV Id: RCV000004528 RCV000004529 RCV000004530 RCV000004531 RCV000020151 RCV000079343 RCV000762852 RCV001004110 RCV004018558
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000148.2:p.Arg502Cys
CA221394
NM_000157.4:c.1504C>T