ClinGen Allele Registry
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Canonical Allele Identifier:
PA915991777
Gene: GBA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
237960
ClinVar RCV:
RCV000225581
ClinVar Variation:
236399
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165282.1:p.Ala52Pro
CA10581620
NM_001171811.2:c.154G>C