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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:
PA2828240808
Gene: POR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
256840
ClinVar RCV Id:
RCV000251974
RCV000405449
RCV001292550
RCV001640493
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001354491.2:p.Ala500Val
CA4304165
NM_001367562.3:c.1499C>T