Canonical Allele Identifier: PA645499698
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 409092
ClinVar RCV Id: RCV002230377
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265003.1:p.Cys1835Ser
CA16612628
NM_001278074.1:c.5504G>C
CA375462140
NM_001278074.1:c.5503T>A