ClinGen Allele Registry
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Canonical Allele Identifier:
PA275429
Gene: GBA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
195917
ClinVar RCV:
RCV000180196
RCV001248862
RCV002500517
ClinVar Variation:
198757
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005741.1:p.Ile299Thr
CA275428
NM_001005741.2:c.896T>C