Canonical Allele Identifier: PA221410
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 93458
ClinVar RCV Id: RCV000079353 RCV001004130 RCV001249030
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005741.1:p.Asn227Lys
CA221409
NM_001005741.2:c.681T>G
CA342722149
NM_001005741.2:c.681T>A