ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573064941
Gene: GAA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073272.1:p.Ser583Phe
CA401369174
NM_001079804.3:c.1748C>T