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Canonical Allele Identifier: Get Identifier
Gene: SMPD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000435350.1:p.[Ala38_Ala44delinsGlyTrpArgTrpArgTrpArgTrpArgTrp;Ala46Cys;Ala48Thr;Ser50_Asp51delinsGlyPhe;Arg53_Val54delinsGly;Trp56_Pro63delinsArgGlnArgLeuThrLeuPhe;Ser65del;Gln67Lys]
CA658822276
ENST00000527275.5:c.113del