ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826089178
Gene: GBA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000004578
ClinVar Variation:
4332
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165283.1:p.Leu361Val
CA253116
NM_001171812.2:c.1081C>G