Canonical Allele Identifier: PA645483741
Gene: ERCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 300091
ClinVar RCV Id: RCV000293985 RCV000346592 RCV000385141 RCV002520599 RCV002520598
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000115.1:p.Pro301Ser
CA5496417
NM_000124.4:c.901C>T