Canonical Allele Identifier: PA2580205649
Gene: ERCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1963072
ClinVar RCV Id: RCV002710892
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001333369.1:p.Lys1243Asn
CA5495286
NM_001346440.2:c.3729G>C
CA376712584
NM_001346440.2:c.3729G>T