Canonical Allele Identifier: PA302109
Gene: NKX2-5 HGNC NCBI

Linked Data

ClinVar Variation Id: 190835
ClinVar RCV Id: RCV000171011 RCV002492707 RCV002354420 RCV001852050
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004378.1:p.Arg197Pro
CA302108
NM_004387.3:c.590G>C