ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829429197
Gene: NKX2-1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
313140
ClinVar RCV Id:
RCV000352600
RCV000405543
RCV000595295
RCV000861414
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003308.1:p.Ala335Ser
CA7158418
NM_003317.4:c.1003G>T