ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA100980
Gene: GPI
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000166.2:p.Asp539Asn
NM_000175.3:c.1615G>A