Allele Registry

Canonical Allele Identifier: PA342813

Gene: GATA1 HGNC NCBI

ClinVar RCV:

RCV000024620

RCV001542264

RCV001725115

RCV002281045

RCV003398569

RCV003989300

ClinVar Variation:

31943

HGVS (amino-acid)	Matching Registered Transcripts
NP_002040.1:p.Arg216Trp	CA342811 NM_002049.4:c.646C>T