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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:
PA2826816485
Gene: GLRA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2734809
ClinVar RCV Id:
RCV003596852
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278929.1:p.Pro175Ser
CA361837909
NM_001292000.1:c.523C>T