Allele Registry

Canonical Allele Identifier: PA915955021

Gene: GBA1 HGNC NCBI

Linked Data - NCBI & NCI

ClinVar Allele:

19332

ClinVar RCV:

RCV000004522

RCV000004523

RCV000004524

RCV000004525

RCV000004526

RCV000055773

RCV000079338

RCV000762853

RCV001004114

RCV001836695

RCV004018557

ClinVar Variation:

4293

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001005742.1:p.Asp448His	CA028618 NM_001005742.2:c.[1342G>C;882T>G] CA221392 NM_001005742.2:c.1342G>C