Canonical Allele Identifier: PA916028845
Gene: ERCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 190151
ClinVar RCV Id: RCV000170369 RCV000274383 RCV000384088 RCV000329433 RCV000723972 RCV002478526 RCV004539574
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001333369.1:p.Lys553Asn
CA199578
NM_001346440.2:c.1659G>T
CA376728648
NM_001346440.2:c.1659G>C