Canonical Allele Identifier: PA916028899
Gene: ERCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 300047
ClinVar RCV Id: RCV000286114 RCV000342577 RCV000405490 RCV000889650
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001333369.1:p.Ser1161Arg
CA5495342
NM_001346440.2:c.3481A>C
CA376714420
NM_001346440.2:c.3483C>G
CA376714422
NM_001346440.2:c.3483C>A