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: PA2826780905

Gene: ERCC8 HGNC NCBI

Linked Data

ClinVar Variation Id: 68752

ClinVar RCV Id: RCV000024268 RCV000059645

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001277214.1:p.Trp208Cys	CA129810 NM_001290285.1:c.624G>T CA359822538 NM_001290285.1:c.624G>C