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Canonical Allele Identifier: Get Identifier
Gene: COL6A2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000395751.1:p.[Phe228_Glu229delinsHisPro;Ile231_Ser240delinsGlyArgArgThrTyrArgLeuProValGlu;Ser242_Asn250delinsGlnGlyGlyCysGlnGlu]
CA638497894
ENST00000413758.1:c.682_689del