Canonical Allele Identifier: PA2826983838
Gene: NTHL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 648777
ClinVar RCV Id: RCV000803580 RCV002424861
ClinVar Variation Id: 1795181
ClinVar RCV Id: RCV002431280 RCV003574967
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305122.2:p.Asp83Tyr
CA394297156
NM_001318193.2:c.247G>T
CA915946197
NM_001318193.2:c.246_247delinsAT