Canonical Allele Identifier: PA239094
Gene: ERCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 193557
ClinVar RCV Id: RCV000173643 RCV000259781 RCV000318448 RCV000354594
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000115.1:p.Arg683Gln
CA239092
NM_000124.4:c.2048G>A