ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826089046
Gene: GBA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000443344
ClinVar Variation:
392923
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165283.1:p.Cys238Phe
CA16603437
NM_001171812.2:c.713G>T