ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573082001
Gene: NTHL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1309727
ClinVar RCV Id:
RCV001756795
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002519.2:p.Pro46Ser
CA394298024
NM_002528.7:c.136C>T