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Canonical Allele Identifier: Get Identifier
Gene: ACVRL1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000011.2:p.[Ala134_Leu138delinsProTrpValSerTrpAlaCys;Leu140_Arg144delinsMetSerAspGlyGly;Gln147_Ser155delinsSerSerValAlaCysThrAlaSerTrp;Leu157_Glu159delinsSerProVal;Ile163_Leu164del]
CA2580086447
NM_000020.3:c.400del