Allele Registry

Canonical Allele Identifier: PA2573067455

Gene: BIVM-ERCC5 HGNC NCBI

ClinVar RCV:

RCV000116991

RCV000625477

RCV001355472

ClinVar Variation:

129010

HGVS (amino-acid)	Matching Registered Transcripts
NP_001191354.2:p.Cys983Ser	CA152765 NM_001204425.2:c.2948G>C CA388573636 NM_001204425.2:c.2947T>A