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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:
PA2825224267
Gene: GABRB2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
421916
ClinVar RCV Id:
RCV000479345
RCV002526615
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000804.1:p.Ile288Thr
CA16618151
NM_000813.3:c.863T>C