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Canonical Allele Identifier: Get Identifier
Gene: COL7A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000506558.1:p.[Pro2577_Gly2584delinsGlnAspCysValAspSerTrpAsp;Gln2586_Ala2592delinsArgValAsnLeuValGlnGln;Ile2594_Val2606delinsSerLeuValThrArgAspProGlnGluArgMetGluCys]
CA2586972222
ENST00000681320.1:c.7730del