Allele Registry

Canonical Allele Identifier: PA094413

Gene: NKX2-5 HGNC NCBI

ClinVar RCV:

RCV000009576

RCV000525369

RCV002362574

RCV002482847

ClinVar Variation:

9011

HGVS (amino-acid)	Matching Registered Transcripts
NP_004378.1:p.Ala219Val	CA248607 NM_004387.3:c.656C>T