ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825065569
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
839690
ClinVar RCV Id:
RCV001041506
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000143.2:p.Ala394Thr
CA294892303
NM_000152.5:c.1180G>A