Canonical Allele Identifier: PA645484124
Gene: ERCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 300067
ClinVar RCV Id: RCV000273288 RCV000309721 RCV000367782 RCV001546942 RCV004537691
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000115.1:p.Ser797Cys
CA5495653
NM_000124.4:c.2390C>G