Allele Registry

Canonical Allele Identifier: PA915982627

Gene: GATA1 HGNC NCBI

ClinVar RCV:

RCV000852178

RCV002245660

ClinVar Variation:

627352

HGVS (amino-acid)	Matching Registered Transcripts
NP_002040.1:p.Asp218Asn	CA412870656 NM_002049.4:c.652G>A