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Canonical Allele Identifier: Get Identifier
Gene: COL7A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011531643.1:p.[Glu1502_Gly1507delinsGlyArgAlaAsnValAsp;Pro1509_Gly1510delinsGlnAlaGlnArgAsp;Ala1512Gly;Ser1514_Arg1515delinsCysGln;Pro1518_Gly1519delinsLeuAsp;Ala1521_Ala1526delinsLeuGluProArgValLeu;Glu1530_Gly1531del;Pro1533del]
CA916080328
XM_011533341.1:c.4505del