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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:
PA645483567
Gene: PADI3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
374869
ClinVar RCV Id:
RCV000415553
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_057317.2:p.Pro605Thr
CA640249
NM_016233.2:c.1813C>A