ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2742003172
Gene: GNAS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_536350.2:p.Arg512Trp
CA9926708
NM_080425.4:c.1534C>T