ClinGen Allele Registry
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Canonical Allele Identifier:
PA253062
Gene: GBA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4294
ClinVar RCV Id:
RCV000004527
RCV000020149
RCV000411499
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005741.1:p.Asp448Val
CA253061
NM_001005741.2:c.1343A>T