ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829408172
Gene: NTHL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3222665
ClinVar RCV Id:
RCV004516049
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002519.2:p.Lys75Gln
CA394297390
NM_002528.7:c.223A>C