ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA099047
Gene: GNAS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
15932
ClinVar RCV Id:
RCV000017286
RCV001729350
RCV002288507
RCV002054444
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000507.1:p.Arg165Cys
CA126062
NM_000516.7:c.493C>T