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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:
PA2825648122
Gene: GABRA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
419523
ClinVar RCV Id:
RCV000478430
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121117.1:p.Gly251Asp
CA16618156
NM_001127645.2:c.752G>A