ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA113106
Gene: GAA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000143.2:p.Cys127Phe
CA401360974
NM_000152.5:c.380G>T