Allele Registry

Canonical Allele Identifier: PA3057541362

Gene: GATA1 HGNC NCBI

ClinVar RCV:

RCV004789909

RCV005218316

RCV005230792

ClinVar Variation:

3377318

HGVS (amino-acid)	Matching Registered Transcripts
NP_002040.1:p.Val74Ile	CA412867311 NM_002049.4:c.220G>A