Canonical Allele Identifier: PA094997
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 93457
ClinVar RCV Id: RCV000079351 RCV000243066 RCV000588402 RCV004019535
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000148.2:p.Trp223Arg
CA221407
NM_000157.4:c.667T>C
CA342722277
NM_000157.4:c.667T>A