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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.[Arg363_Ile364delinsSerTrp;Gly366_Ser371delinsValLeuCysSerPhe;Tyr373Ile;Gly375_Leu376del;Leu378_Ile379del;Leu381_Asn390delinsProProHisLeuSerGlnTyrGluPheLeu;Trp392Pro;Leu394del]
CA2612222817
ENST00000527275.5:c.1089_1090del