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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:
PA2825225516
Gene: GABRB3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
581500
ClinVar RCV Id:
RCV000705340
RCV002360825
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000805.1:p.Val214Met
CA7437394
NM_000814.6:c.640G>A