ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499237117
Gene: NKX2-1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073136.1:p.Arg243Cys
CA389459177
NM_001079668.3:c.727C>T