ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139685245
Gene: NKX2-1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
985595
ClinVar RCV Id:
RCV001266584
RCV002246262
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073136.1:p.Arg208Pro
CA389459409
NM_001079668.3:c.623G>C