ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825462075
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
370130
ClinVar RCV Id:
RCV000408964
RCV000521900
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073271.1:p.Arg600His
CA8815482
NM_001079803.3:c.1799G>A