Allele Registry

Canonical Allele Identifier: PA2825045767

Gene: ERCC5 HGNC NCBI

ClinVar RCV:

RCV000116991

RCV000625477

RCV001355472

ClinVar Variation:

129010

HGVS (amino-acid)	Matching Registered Transcripts
NP_000114.3:p.Cys529Ser	CA152765 NM_000123.4:c.1586G>C CA388573636 NM_000123.4:c.1585T>A