ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913184897
Gene: GAA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
ENSP00000305692.3:p.Leu291Phe
CA8815079
ENST00000302262.8:c.871C>T