ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658802179
Gene: NKX2-1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
505233
ClinVar RCV Id:
RCV000611659
RCV002529324
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073136.1:p.Arg195Gln
CA389459494
NM_001079668.3:c.584G>A