Canonical Allele Identifier: PA240640
Gene: ERCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 194590
ClinVar RCV Id: RCV000174989 RCV000307545 RCV000397231 RCV000364521 RCV004537372
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000115.1:p.Arg975Gln
CA240638
NM_000124.4:c.2924G>A