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Canonical Allele Identifier: Get Identifier
Gene: GNPTAB HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077288.2:p.[Val170_Pro173delinsLeuGlnAsnGln;Asn175_Val180delinsThrLeuLeuProMet;Val182_Val184delinsGlnLeuLeu;Asp186_Ser187delinsLeu;Lys189_Gly197delinsValLeuArgMetLeuLysMetProThr;Leu198_Leu199insAspCys]
CA2620445733
NM_024312.5:c.508del