ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826088921
Gene: GBA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
198110
ClinVar RCV Id:
RCV000179352
RCV003323429
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165283.1:p.Met113Thr
CA246603
NM_001171812.2:c.338T>C