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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:
PA2829963115
Gene: GNAO1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
374381
ClinVar RCV Id:
RCV000414910
RCV000657944
RCV001580371
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066268.1:p.Tyr231Cys
CA16043691
NM_020988.3:c.692A>G