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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:
PA2825647597
Gene: GABRA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
802172
ClinVar RCV Id:
RCV000987626
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121116.1:p.Asp90Asn
CA362178682
NM_001127644.2:c.268G>A