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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:
PA658828179
Gene: GNAO1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
545591
ClinVar RCV Id:
RCV000656551
RCV001731851
RCV001756114
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066268.1:p.Val202Ile
CA395952155
NM_020988.3:c.604G>A