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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.[Glu505_Ser509delinsGlyAlaAlaCysGlu;Val511_Gln515delinsCysAsnArgPro;Thr517_Val526delinsSerHisArgAlaAlaArgAlaAlaGlyAla;Trp528_Ser529delinsValLeuGlu;Val531Ser;Gly533_Ala534delinsTrpCys]
CA2739278126
XM_011533342.1:c.1513dup