ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA126063
Gene: GNAS
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
30971
ClinVar RCV:
RCV000017286
RCV001729350
RCV002054444
RCV002288507
ClinVar Variation:
15932
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070957.1:p.Arg150Cys
CA126062
NM_001077489.4:c.448C>T