ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA116618
Gene: GAA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001073271.1:p.Pro545Leu
NM_001079803.3:c.1634C>T