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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:
PA2828913250
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_001369588.2:p.Ala284Pro
CA257653
NM_001382659.3:c.850G>C