Canonical Allele Identifier: PA093806
Gene: GBA1 HGNC NCBI
ClinVar RCV:
RCV000004560
ClinVar Variation:
4316
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000148.2:p.Ala348Val
CA253090
NM_000157.4:c.1043C>T