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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:
PA2826285621
Gene: HSD11B1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
31588
ClinVar RCV Id:
RCV000024294
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001193670.1:p.Arg137Cys
CA213398
NM_001206741.2:c.409C>T