Allele Registry

Canonical Allele Identifier: PA2826026700

Gene: NKX2-5 HGNC NCBI

ClinVar RCV:

RCV002430913

ClinVar Variation:

1792045

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159647.1:p.Ala83Val	CA362163398 NM_001166175.2:c.248C>T