ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645376554
Gene: NKX2-1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073136.1:p.Pro291Leu
CA16043872
NM_001079668.3:c.872C>T