Canonical Allele Identifier: PA658818677
Gene: COL5A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265003.1:p.Asp1717_Glu1719del
CA658797358
NM_001278074.1:c.5150_5158del