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Canonical Allele Identifier: Get Identifier
Gene: SMPD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000534.3:p.[Ala48del;Ser50_Val54delinsCysLeuThr;Trp56_Pro63delinsGlyPheSerGlyLeuArgGlnArg;Ser65_Pro70delinsThrLeuPheLeuProLys;Arg72Ile;His74_Arg75delinsProGlyTyr;Val77Ala]
CA2612221023
NM_000543.5:c.142del