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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:
PA2580135401
Gene: GABRA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1944676
ClinVar RCV Id:
RCV002639898
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121120.1:p.Leu35Ile
CA362181500
NM_001127648.2:c.103C>A