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Canonical Allele Identifier: Get Identifier
Gene: SACS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.[Thr3232_Trp3234delinsLysSerGly;Asp3236_Glu3241delinsThrIleLeuGlnVal;Trp3243del;Lys3245_Trp3248delinsGlyLeuArgMet;Phe3250Gly;Ser3252_Ser3254delinsLeuLeu;Ser3256_Lys3258delinsAsnLeu;Asp3260_Gln3261del;Glu3263del]
CA2695217787
NM_014363.6:c.9695del