Canonical Allele Identifier: PA915963467
Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 411298
ClinVar RCV Id: RCV000458880
ClinVar Variation Id: 426015
ClinVar RCV Id: RCV000488551
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001070869.1:p.Arg218Pro
CA16614158
NM_001077401.2:c.653G>C
CA645293884
NM_001077401.2:c.653_654delinsCC