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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:
PA645413885
Gene: PC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
379685
ClinVar RCV Id:
RCV004022319
RCV000433773
RCV000675086
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035806.1:p.Ile394Thr
CA16606295
NM_001040716.2:c.1181T>C