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: PA2573061336

Gene: ERCC5 HGNC NCBI

Linked Data

ClinVar Variation Id: 134195

ClinVar RCV Id: RCV000120868 RCV000625478 RCV000995081 RCV001292856 RCV002256061 RCV003905150

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000114.3:p.Val597Leu	CA159081 NM_000123.4:c.1789G>C CA388574381 NM_000123.4:c.1789G>T