Canonical Allele Identifier: PA645499645
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 422922
ClinVar RCV Id: RCV000481607
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265003.1:p.Thr1743_His1745del
CA16618790
NM_001278074.1:c.5227_5235del