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Canonical Allele Identifier: Get Identifier
Gene: COL5A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000481360.1:p.Gly1838_Ter1839insTrpGluProProSerProGlySerArgGluGlnProArgAspLeuSerMetProPheValArgGluCysProValHisValLeuThrLeuAspSerGluGlyPheSerLeuProSerHisLeuThrSerSerThrProArgHisHisGlyValTrpAspProSerProGluArgThrGluGlyArgSerArgAlaProThrTrpSer
CA375462192
ENST00000618395.4:c.5516A>G