Canonical Allele Identifier: PA645430274
Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 411298
ClinVar RCV Id: RCV000458880
ClinVar Variation Id: 426015
ClinVar RCV Id: RCV000488551

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000011.2:p.Arg218Pro
CA16614158
NM_000020.3:c.653G>C
CA645293884
NM_000020.3:c.653_654delinsCC