ClinGen Allele Registry
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Canonical Allele Identifier:
PA658655414
Gene: GBA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
446213
ClinVar RCV Id:
RCV000515467
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005741.1:p.Asp176Asn
CA342724232
NM_001005741.2:c.526G>A