Canonical Allele Identifier: PA2825068867
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2503945
ClinVar RCV Id: RCV003230936
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000148.2:p.Ser405Arg
CA30894738
NM_000157.4:c.1215C>G
CA30894739
NM_000157.4:c.1215C>A
CA342714654
NM_000157.4:c.1213A>C