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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
XP_011537310.1:p.Lys397del
XM_011539008.1:c.1190_1192del
XM_011539008.1:c.[1190_1192del;1194A=]
XM_011539008.1:c.[1190_1192del;1194A>C]
XM_011539008.1:c.[1190_1192del;1194A>G]
XM_011539008.1:c.[1190_1192del;1194A>T]