ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916021125
Gene: GNAS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
134479
ClinVar RCV Id:
RCV000121161
RCV000948056
RCV002483218
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001296812.1:p.Pro374Thr
CA159934
NM_001309883.1:c.1120C>A