Canonical Allele Identifier: PA2741842896
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2573446
ClinVar RCV Id: RCV003317782
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001165282.1:p.Ile70Phe
CA342724835
NM_001171811.2:c.208A>T