Canonical Allele Identifier: PA916028825
Gene: ERCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 300087
ClinVar RCV Id: RCV000307520 RCV000359960 RCV000731973 RCV000406265 RCV000871745 RCV004537692
ClinVar Variation Id: 300088
ClinVar RCV Id: RCV000267854 RCV000301875 RCV000358992
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001333369.1:p.Asp386Glu
CA5496378
NM_001346440.2:c.1158C>G
CA10631775
NM_001346440.2:c.1158C>A