ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580278876
Gene: NTHL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2014505
ClinVar RCV Id:
RCV002861528
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002519.2:p.Thr107Ile
CA394295285
NM_002528.7:c.320C>T