ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139710295
Gene: NTHL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
863607
ClinVar RCV Id:
RCV001070608
RCV004030757
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002519.2:p.Leu105Val
CA394295396
NM_002528.7:c.313C>G