ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825065079
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
972389
ClinVar RCV Id:
RCV001248409
RCV001813817
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000143.2:p.Asp163Val
CA8814880
NM_000152.5:c.488A>T