Canonical Allele Identifier: PA253085
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4313
ClinVar RCV Id: RCV000004556
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005741.1:p.Val54Leu
CA253084
NM_001005741.2:c.160G>T
CA342728253
NM_001005741.2:c.160G>C