Allele Registry

Canonical Allele Identifier: PA353846

Gene: NKX2-5 HGNC NCBI

ClinVar RCV:

RCV000203525

ClinVar Variation:

219169

HGVS (amino-acid)	Matching Registered Transcripts
NP_004378.1:p.Ala148Glu	CA279927 NM_004387.3:c.443C>A