ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915955019
Gene: GBA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4324
ClinVar RCV Id:
RCV000004568
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005742.1:p.Pro440Leu
CA253103
NM_001005742.2:c.1319C>T