ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915955013
Gene: GBA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4303
ClinVar RCV Id:
RCV000004544
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005742.1:p.Val437Phe
CA253069
NM_001005742.2:c.1309G>T