Allele Registry

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.

Canonical Allele Identifier: PA2580109785

Gene: ERCC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1705267

ClinVar RCV Id: RCV002292386 RCV002416553

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000391.1:p.Lys692Glu	CA406362415 NM_000400.4:c.2074A>G