Allele Registry

Canonical Allele Identifier: PA645430313

Gene: ACVRL1 HGNC NCBI

ClinVar RCV:

RCV000474312

RCV000519342

ClinVar Variation:

411310

HGVS (amino-acid)	Matching Registered Transcripts
NP_000011.2:p.Ala306Lys	CA16614160 NM_000020.3:c.916_917delinsAA