Allele Registry

This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.

Canonical Allele Identifier: Get Identifier

Gene: ACVRL1 HGNC NCBI

HGVS (amino-acid)	Transcript change
ENSP00000373574.4:p.Leu72Ter	ENST00000388922.9:c.[210_213delinsAAA;217... ENST00000388922.9:c.[215del;217C>A] ENST00000388922.9:c.215T>A