Canonical Allele Identifier: PA1139684768
Gene: ACVRL1 HGNC NCBI

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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_001070869.1:p.Lys487del
NM_001077401.2:c.1460_1462del

NM_001077401.2:c.[1460_1462del;1464A=]

NM_001077401.2:c.[1460_1462del;1464A>C]

NM_001077401.2:c.[1460_1462del;1464A>G]

NM_001077401.2:c.[1460_1462del;1464A>T]