Canonical Allele Identifier: PA645499633
Gene: COL5A1 HGNC NCBI

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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_001265003.1:p.Ser1714del
NM_001278074.1:c.5141_5143del

NM_001278074.1:c.[5141_5143del;5145T>C]