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: PA915973383

Gene: ERCC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 16784

ClinVar RCV Id: RCV000018274 RCV000018273 RCV000424822 RCV003466865

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124339.1:p.Arg88His	CA126883 NM_001130867.2:c.263G>A