Allele Registry

Canonical Allele Identifier: PA094846

Gene: NKX2-5 HGNC NCBI

ClinVar Allele:

24043

ClinVar RCV:

RCV000009568

ClinVar Variation:

9004

HGVS (amino-acid)	Matching Registered Transcripts
NP_004378.1:p.Thr178Met	CA212653 NM_004387.3:c.533C>T