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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:
PA2828583464
Gene: GABRG2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
408211
ClinVar RCV Id:
RCV000467084
RCV002272242
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362275.1:p.Gly332Val
CA16612028
NM_001375346.1:c.995G>T