ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645388128
Gene: GBA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000321615
RCV001249028
ClinVar Variation:
280972
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005741.1:p.Tyr174Cys
CA1141727
NM_001005741.2:c.521A>G