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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:
PA2828583430
Gene: GABRG2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
205549
ClinVar RCV Id:
RCV000187530
RCV000196679
RCV001260612
RCV003491934
RCV003448280
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362275.1:p.Arg301Trp
CA314732
NM_001375346.1:c.901C>T