ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573061608
Gene: GBE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1338988
ClinVar RCV Id:
RCV001823442
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000149.4:p.Gly534Val
CA353684592
NM_000158.4:c.1601G>T