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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:
PA2826017142
Gene: PEPD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2844743
ClinVar RCV Id:
RCV003719143
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159529.1:p.Met213Val
CA405224783
NM_001166057.2:c.637A>G