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Canonical Allele Identifier: Get Identifier
Gene: COL5A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000084.3:p.[Cys1835_Met1837delinsLeuLeuHis;Gly1838_Ter1839insLeuGlyAlaAlaGluProGlyLeuProArgAlaThrSer]
CA2842450441
NM_000093.5:c.5503dup