ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645481520
Gene: GAA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000143.2:p.Gln57Ter
NM_000152.5:c.169C>T