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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:
PA2826168947
Gene: AKR1D1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
5376
ClinVar RCV Id:
RCV000005707
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001177835.1:p.Leu106Phe
CA117467
NM_001190906.2:c.316C>T