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Canonical Allele Identifier: Get Identifier
Gene: COL7A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011531644.1:p.[Thr1918_Gly1919delinsArgAla;Lys1921_Arg1924delinsArgValThrVal;Glu1926_Ser1929delinsArgLeuAspPro;Glu1932_Gly1937delinsSerArgAlaSerLeu;Arg1939_Gly1943delinsSerValAlaCysGlu;Pro1945_Ser1947delinsSerLeuGluVal]
CA645522644
XM_011533342.1:c.5753del