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Canonical Allele Identifier: Get Identifier
Gene: COL5A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265003.1:p.[Pro501_Pro507delinsLeuAspAlaGlnAlaPheLeu;Ala509_Leu512delinsProMetAlaCys;Gly514_Leu522delinsValLeuGlnGluProCysSerCysCys;Phe524_Gly530delinsSerGlyLeuGluValAlaAla]
CA467652881
NM_001278074.1:c.1502del