Canonical Allele Identifier: PA645483752
Gene: ERCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 300085
ClinVar RCV Id: RCV000296235 RCV000348685 RCV000388161 RCV000923032
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000115.1:p.Glu387Lys
CA5496377
NM_000124.4:c.1159G>A