Canonical Allele Identifier: PA2499244878
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1213424
ClinVar RCV Id: RCV001591596 RCV001882707
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265003.1:p.Asp1761Asn
CA5320681
NM_001278074.1:c.5281G>A