ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA126108
Gene: GNAS
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000017322
RCV000017323
RCV002243646
ClinVar Variation:
15953
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_536350.2:p.Pro758Leu
CA126104
NM_080425.4:c.2273C>T