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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:
PA2825647596
Gene: GABRA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1978165
ClinVar RCV Id:
RCV002774988
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121116.1:p.Asp90Gly
CA362178685
NM_001127644.2:c.269A>G