ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645481556
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000370905
RCV000547185
RCV002509345
ClinVar Variation:
283219
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000143.2:p.Arg89His
CA8814833
NM_000152.5:c.266G>A