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Canonical Allele Identifier: Get Identifier
Gene: SFTPB HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000428719.2:p.[Leu301_Gln308delinsProGlyArgGluGlnGlnArg;Asn311_Gln315delinsHisThrThrGlyAsn;Ile317del;Gln319_Met321delinsGly;Gln323_Ala324del;Val326_Ser328del;Asp331_Cys335delinsLeuAlaGlyGlnGly;Lys336_Gln337insVal;Gln337_Phe338insAla]
CA534183676
ENST00000519937.7:c.902_921del