ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826089104
Gene: GBA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4316
ClinVar RCV Id:
RCV000004560
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165283.1:p.Ala299Val
CA253090
NM_001171812.2:c.896C>T