ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825065130
Gene: GAA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000143.2:p.Arg190Leu
CA8814930
NM_000152.5:c.569G>T