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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.[Leu2305_Ala2308delinsArgSer;Glu2311_Lys2312delinsArgGlu;Ala2314Ser;Gly2316_Glu2325delinsTrpArgProCysTrpArg;Ala2328_Pro2335del]
CA916888237
NM_000094.4:c.6914_6918del