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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:
PA2828580834
Gene: GABRG2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
16207
ClinVar RCV Id:
RCV000017591
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362268.1:p.Lys325Met
CA126265
NM_001375339.1:c.974A>T