ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915998894
Gene: NTHL1
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_002519.2:p.Ala115Asp
NM_002528.7:c.344C>A