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Canonical Allele Identifier: Get Identifier
Gene: BSCL2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000413209.1:p.[Ser165delinsLeuAla;Leu167_Leu168delinsCysTyr;Phe170_Tyr187delinsAlaLeuGlnSerArgSerSerCysTrpArgTrpAsnSerThrGlnThrIleGlu;Glu189_Pro194delinsThrArgThrCysArg]
CA2613985901
ENST00000421906.5:c.494del