Allele Registry

Canonical Allele Identifier: PA345940

Gene: GATA1 HGNC NCBI

ClinVar RCV:

RCV000011175

RCV000144253

RCV001857491

ClinVar Variation:

156266

HGVS (amino-acid)	Matching Registered Transcripts
NP_002040.1:p.Val74Leu	CA345938 NM_002049.4:c.220G>C