Canonical Allele Identifier: PA1139684453
Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 853597
ClinVar RCV Id: RCV001058436
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001070869.1:p.Cys389_Tyr393del
CA916081672
NM_001077401.2:c.1165_1179del