Canonical Allele Identifier: PA645484280
Gene: ERCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 300047
ClinVar RCV Id: RCV000286114 RCV000342577 RCV000405490 RCV000889650
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000115.1:p.Ser1161Arg
CA5495342
NM_000124.4:c.3481A>C
CA376714420
NM_000124.4:c.3483C>G
CA376714422
NM_000124.4:c.3483C>A