Allele Registry

Canonical Allele Identifier: PA916005675

Gene: GHR HGNC NCBI

ClinVar RCV:

RCV000009170

RCV002512935

ClinVar Variation:

8638

HGVS (amino-acid)	Matching Registered Transcripts
NP_001229328.1:p.Glu249Asp	CA119800 NM_001242399.2:c.747G>C CA359696010 NM_001242399.2:c.747G>T