ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573223943
Gene: NTHL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1401932
ClinVar RCV Id:
RCV001913236
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002519.2:p.Glu80_Gln82del
CA620704675
NM_002528.7:c.240_248del