ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580148126
Gene: NKX2-1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1994716
ClinVar RCV Id:
RCV002791342
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073136.1:p.Gln202Arg
CA389459449
NM_001079668.3:c.605A>G