ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573176423
Gene: NKX2-1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1486375
ClinVar RCV Id:
RCV002003549
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073136.1:p.Glu220Lys
CA389459335
NM_001079668.3:c.658G>A