ClinGen Allele Registry
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Canonical Allele Identifier:
PA253122
Gene: GBA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4335
ClinVar RCV Id:
RCV000004582
RCV001174737
RCV001582465
RCV001826414
RCV002490310
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005741.1:p.Asp482Asn
CA253118
NM_001005741.2:c.1444G>A