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Canonical Allele Identifier: Get Identifier
Gene: SMPD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000340409.4:p.[Arg364_Ile365delinsSerTrp;Gly367_Ser372delinsValLeuCysSerPhe;Tyr374Ile;Gly376_Leu377del;Leu379_Ile380del;Leu382_Asn391delinsProProHisLeuSerGlnTyrGluPheLeu;Trp393_Leu394delinsPro]
CA2612222817
ENST00000342245.8:c.1092_1093del