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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:
PA2573215931
Gene: POR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
16902
ClinVar RCV Id:
RCV000018401
RCV000170457
RCV000519572
RCV002243651
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001369584.2:p.Ala302Pro
CA257653
NM_001382655.3:c.904G>C