Canonical Allele Identifier: PA645484268
Gene: ERCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 300055
ClinVar RCV Id: RCV000281519 RCV000338857 RCV000403327 RCV002520595 RCV002487335
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000115.1:p.Lys997Glu
CA5495457
NM_000124.4:c.2989A>G