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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826939157
Gene: GNAS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
15953
ClinVar RCV Id:
RCV000017322
RCV000017323
RCV002243646
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001296769.1:p.Pro56Leu
CA126104
NM_001309840.2:c.167C>T