ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829429131
Gene: NKX2-1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1517904
ClinVar RCV Id:
RCV002021364
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003308.1:p.Arg191Pro
CA389459323
NM_003317.4:c.572G>C