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Canonical Allele Identifier: Get Identifier
Gene: GNPTAB HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000449150.1:p.[Ser399_Ile403delinsAlaValProGluVal;Asn406_Trp416del;Asp418_Gln427del]
CA343338
ENST00000549940.5:c.1191_1194dup