Allele Registry

Canonical Allele Identifier: PA102024

Gene: GATA1 HGNC NCBI

ClinVar RCV:

RCV000011173

RCV001382887

RCV001542263

RCV001701722

RCV003137511

ClinVar Variation:

10428

HGVS (amino-acid)	Matching Registered Transcripts
NP_002040.1:p.Arg216Gln	CA340965 NM_002049.4:c.647G>A