Canonical Allele Identifier: PA253123
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4335
ClinVar RCV Id: RCV000004582 RCV001174737 RCV001582465 RCV001826414 RCV002490310
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005742.1:p.Asp482Asn
CA253118
NM_001005742.2:c.1444G>A