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Canonical Allele Identifier: Get Identifier
Gene: SMPD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000432625.1:p.[Leu39_Ala44delinsArgArgTrpArgTrpArgTrpArgTrp;Ala46Cys;Ala48Thr;Ser50_Asp51delinsGlyPhe;Arg53_Val54delinsGly;Trp56_Pro63delinsArgGlnArgLeuThrLeuPhe;Ser65del;Gln67_Gly68delinsLysAla]
CA597438128
ENST00000531303.5:c.116del