Allele Registry

Canonical Allele Identifier: PA916028893

Gene: ERCC6 HGNC NCBI

ClinVar RCV:

RCV000116997

RCV000287947

RCV000322054

RCV000378942

RCV001519186

RCV002154035

ClinVar Variation:

129016

1648708

HGVS (amino-acid)	Matching Registered Transcripts
NP_001333369.1:p.Met1097Val	CA090900 NM_001346440.2:c.3289A>G CA2573145162 NM_001346440.2:c.3288_3289delinsTG