Allele Registry

Canonical Allele Identifier: PA2828329979

Gene: ERCC1 HGNC NCBI

ClinVar RCV:

RCV000018266

RCV000252117

ClinVar Variation:

16778

HGVS (amino-acid)	Matching Registered Transcripts
NP_001356348.1:p.Phe231Leu	CA126880 NM_001369419.1:c.693C>G CA406355844 NM_001369419.1:c.693C>A CA406355851 NM_001369419.1:c.691T>C