ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825065469
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1775202
ClinVar RCV Id:
RCV002405355
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000143.2:p.Ser349Gly
CA401364715
NM_000152.5:c.1045A>G