ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645481579
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
283495
ClinVar RCV Id:
RCV000298334
RCV000540426
RCV000852727
RCV001697646
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000143.2:p.Gly123Glu
CA8814859
NM_000152.5:c.368G>A