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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:
PA214679
Gene: GNAS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
15942
ClinVar RCV Id:
RCV000017307
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_536351.1:p.Arg244Ala
CA214677
NM_080426.4:c.730_731delinsGC