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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:
PA2741814670
Gene: ERCC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2675053
ClinVar RCV Id:
RCV003467929
RCV003553951
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000391.1:p.Gly675Arg
CA406362835
NM_000400.4:c.2023G>C