Allele Registry

Canonical Allele Identifier: PA1139712655

Gene: NKX2-5 HGNC NCBI

ClinVar RCV:

RCV001210640

RCV002365948

ClinVar Variation:

940953

HGVS (amino-acid)	Matching Registered Transcripts
NP_004378.1:p.Arg225Cys	CA132259062 NM_004387.3:c.673C>T