ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826088719
Gene: GBA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
19329
ClinVar RCV:
RCV000004515
RCV000004516
RCV000004517
RCV000079336
RCV000396221
RCV000414782
RCV000515439
RCV001004117
RCV001195689
RCV001197918
RCV001270528
RCV002247244
RCV003982824
RCV004018556
RCV004555830
ClinVar Variation:
4290
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165282.1:p.Asn322Ser
CA116767
NM_001171811.2:c.965A>G