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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:
PA891848263
Gene: GNAO1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
569271
ClinVar RCV Id:
RCV000689860
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066268.1:p.Asn257del
CA891843557
NM_020988.3:c.771_773del