ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA092090
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
370577
ClinVar RCV Id:
RCV000410689
RCV000730212
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000143.2:p.Tyr292Cys
CA16041886
NM_000152.5:c.875A>G