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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:
PA2826089277
Gene: GBA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4289
ClinVar RCV Id:
RCV000004514
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165283.1:p.Pro405Arg
CA253055
NM_001171812.2:c.1214C>G