ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA221399
Gene: GBA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000055774
RCV000179355
ClinVar Variation:
65570
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005741.1:p.Arg159Trp
CA221398
NM_001005741.2:c.475C>T