ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA099226
Gene: GNAS
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000017322
RCV000017323
RCV002243646
ClinVar Variation:
15953
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000507.1:p.Pro115Leu
CA126104
NM_000516.7:c.344C>T