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Canonical Allele Identifier: Get Identifier
Gene: COL7A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.[Pro1990_Gly1994delinsGlnAlaArgArgAla;Ile1996_Gly1997delinsSerAla;Pro1999_Gly2000delinsLeu;Arg2002_Lys2005delinsAsnAla;Asp2007_Leu2019del]
CA2586972383
NM_000094.4:c.5969del