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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:
PA343792
Gene: SLC52A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
39576
ClinVar RCV Id:
RCV000032776
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001240745.1:p.Leu123Pro
CA343790
NM_001253816.2:c.368T>C