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Canonical Allele Identifier: Get Identifier
Gene: SMPD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305016.1:p.[Gln19_Asp22delinsArgAspLysThr;Thr24_Ala27delinsProProGluPro;Gly29_Leu31delinsAspSerPheGly;Met33_Ala46delinsAlaTrpCysTrpArgTrpArgTrpArgTrpArgTrpArgTrp;Ala48del]
CA658822275
NM_001318087.2:c.56del