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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:
PA2826172263
Gene: GABRB3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
372868
ClinVar RCV Id:
RCV000413814
RCV003766150
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001178250.1:p.Ile209Phe
CA16042907
NM_001191321.3:c.625A>T