Canonical Allele Identifier: PA645430340
Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 426023
ClinVar RCV Id: RCV000488852 RCV000507211 RCV000525054 RCV002404279
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000011.2:p.Ala352Asp
CA384901981
NM_000020.3:c.1055C>A