Canonical Allele Identifier: PA2825061414
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1368240
ClinVar RCV Id: RCV001867404

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000084.3:p.Asp413del
CA2573144124
NM_000093.5:c.1239_1241del