Canonical Allele Identifier: PA254376
Gene: ACVRL1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_000011.2:p.Gly48_Ala49delinsGluPro
NM_000020.3:c.[143G>A;145G>C]

NM_000020.3:c.143_147delinsAGCCT