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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:
PA2825648183
Gene: GABRA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127075
ClinVar RCV Id:
RCV000114938
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121117.1:p.Lys306Thr
CA151361
NM_001127645.2:c.917A>C