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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:
PA2825744055
Gene: ERCC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1523542
ClinVar RCV Id:
RCV002038958
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124339.1:p.Val285Met
CA406373361
NM_001130867.2:c.853G>A