ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826089113
Gene: GBA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000180536
RCV000781410
RCV001248921
ClinVar Variation:
93444
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165283.1:p.Asp305His
CA221379
NM_001171812.2:c.913G>C