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Canonical Allele Identifier: Get Identifier
Gene: BSCL2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001116427.1:p.[Ser229delinsLeuAla;Leu231_Leu232delinsCysTyr;Phe234_Tyr251delinsAlaLeuGlnSerArgSerSerCysTrpArgTrpAsnSerThrGlnThrIleGlu;Glu253_Pro258delinsThrArgThrCysArg]
CA2613985901
NM_001122955.4:c.686del