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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:
PA2828584593
Gene: GABRG2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2501942
ClinVar RCV Id:
RCV003228361
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362279.1:p.Met175Thr
CA362182339
NM_001375350.1:c.524T>C