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Canonical Allele Identifier: Get Identifier
Gene: POMT1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000404119.1:p.[Thr693_Arg695delinsAsnAlaAla;Leu697del;Tyr699_Pro706del;Glu708del;Lys710_Leu712del;Trp714_Ile722delinsGlyGlnValThrLeuAlaThr]
CA2695211408
ENST00000423007.5:c.2077dup