ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA093955
Gene: GBA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001004118
ClinVar Variation:
813336
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000148.2:p.Arg392Trp
CA342715091
NM_000157.4:c.1174C>T