ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499237115
Gene: NKX2-1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1184974
ClinVar RCV Id:
RCV001543583
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073136.1:p.Leu206Pro
CA389459421
NM_001079668.3:c.617T>C