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: PA104330

Gene: ERCC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 16784

ClinVar RCV Id: RCV000018274 RCV000018273 RCV000424822 RCV003466865

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000391.1:p.Arg112His	CA126883 NM_000400.4:c.335G>A