Canonical Allele Identifier: PA2826089172
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4290
ClinVar RCV Id: RCV000004517 RCV000004515 RCV000004516 RCV000079336 RCV000414782 RCV000396221 RCV000515439 RCV001195689 RCV001004117 RCV001270528 RCV001197918 RCV002247244 RCV004555830 RCV003982824 RCV004018556
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001165283.1:p.Asn360Ser
CA116767
NM_001171812.2:c.1079A>G