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Canonical Allele Identifier: Get Identifier
Gene: COL5A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000360882.3:p.[Asp1787del;Cys1789_Ile1802delinsArgLeuCysTyrGlnGluArgLeuProGluAspGlySerGly;Thr1804delinsArgHis;Lys1806_Ile1815delinsGlnSerGlyAlaGlyAlaHisArgGlyHisHis]
CA322042
ENST00000371817.8:c.5357dup