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This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
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Gene: ACVRL1
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001070869.1:p.Leu72Ter
NM_001077401.2:c.[210_213delinsAAA;217C>A...
NM_001077401.2:c.[215del;217C>A]
NM_001077401.2:c.215T>A
