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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:
PA2830156018
Gene: GNAS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
422467
ClinVar RCV Id:
RCV000481496
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_536350.2:p.Cys1022Tyr
CA16620945
NM_080425.4:c.3065G>A