Allele Registry

Canonical Allele Identifier: PA916028904

Gene: ERCC6 HGNC NCBI

ClinVar RCV:

RCV000116998

RCV000272009

RCV000329399

RCV000367801

RCV001519185

RCV002149982

ClinVar Variation:

129017

1609007

HGVS (amino-acid)	Matching Registered Transcripts
NP_001333369.1:p.Arg1213Gly	CA152785 NM_001346440.2:c.3637A>G CA2573145155 NM_001346440.2:c.3636_3637delinsTG