ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830156137
Gene: GNAS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_536351.1:p.Pro178Leu
CA409452044
NM_080426.4:c.533C>T