Canonical Allele Identifier: PA158775
Gene: ERCC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 134102
ClinVar RCV Id: RCV000120774 RCV000255243 RCV000761018 RCV000990227 RCV000778547 RCV001329855 RCV003114266 RCV002515854 RCV003467078
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000391.1:p.Ala717Gly
CA158773
NM_000400.4:c.2150C>G
CA2580573375
NM_000400.4:c.[2150C>G;1381C>G]