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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:
PA2828450510
Gene: GABRB2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
427157
ClinVar RCV Id:
RCV000489113
RCV000708583
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358656.1:p.Val302Met
CA362175375
NM_001371727.1:c.904G>A