Canonical Allele Identifier: PA341577
Gene: GBA1 HGNC NCBI
ClinVar Allele:
47036
ClinVar RCV:
RCV000020146
ClinVar Variation:
38301
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005741.1:p.Asn409Thr
CA341575
NM_001005741.2:c.1226A>C