ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658674450
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
456402
ClinVar RCV Id:
RCV000530517
RCV003235273
RCV001770411
RCV002456047
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000143.2:p.Arg819Trp
CA8815746
NM_000152.5:c.2455C>T