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Canonical Allele Identifier: Get Identifier
Gene: GNPTAB HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011537033.1:p.[Pro314_Pro328delinsLeuHisMetGlySerGluTyrPheHisCysHisGlnArgAlaAsp;Trp330Ile;Asn332_Asn335delinsAlaGlu;Arg337_His343del]
CA242462565
XM_011538731.2:c.940_941insTGCA