Canonical Allele Identifier: PA645388078
Gene: GBA1 HGNC NCBI
ClinVar RCV:
RCV000225581
ClinVar Variation:
236399
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005741.1:p.Ala139Pro
CA10581620
NM_001005741.2:c.415G>C