ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826983955
Gene: NTHL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2624713
ClinVar RCV Id:
RCV003377547
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305122.2:p.Pro117Arg
CA394295043
NM_001318193.2:c.350C>G