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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:
PA2825647332
Gene: GABRA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
280804
ClinVar RCV Id:
RCV000259298
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121115.1:p.Met263Lys
CA10602913
NM_001127643.2:c.788T>A