ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645481848
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
282242
ClinVar RCV Id:
RCV000269526
RCV000689295
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000143.2:p.Ala610Thr
CA8815492
NM_000152.5:c.1828G>A