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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:
PA2825220198
Gene: GABRA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1683897
ClinVar RCV Id:
RCV002244419
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000797.2:p.Ile89Val
CA3544392
NM_000806.5:c.265A>G