ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645481594
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
325778
ClinVar RCV Id:
RCV000309076
RCV000786313
RCV002469130
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000143.2:p.Arg168Gln
CA8814884
NM_000152.5:c.503G>A