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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:
PA2828584337
Gene: GABRG2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1709991
ClinVar RCV Id:
RCV002290333
RCV003774967
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362278.1:p.Thr219Lys
CA362182331
NM_001375349.1:c.656C>A