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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:
PA2829384830
Gene: PEX10
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1392132
ClinVar RCV Id:
RCV001882106
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002608.1:p.Gly124Glu
CA337988270
NM_002617.4:c.371G>A