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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:
PA2580157146
Gene: PEX2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2048343
ClinVar RCV Id:
RCV002918701
RCV003331399
RCV002931826
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165558.2:p.Ile211Thr
CA4788676
NM_001172087.2:c.632T>C