Canonical Allele Identifier: PA915991784
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4291
ClinVar RCV Id: RCV000004519 RCV000004518 RCV000020154 RCV001250522 RCV001781178
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001165282.1:p.Arg72Gln
CA253057
NM_001171811.2:c.215G>A