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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:
PA2829384755
Gene: PEX10
HGNC
NCBI
Linked Data
ClinVar Variation Id:
500164
ClinVar RCV Id:
RCV000592808
RCV002532505
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002608.1:p.Arg92Cys
CA337988831
NM_002617.4:c.274C>T