Canonical Allele Identifier: PA658666634
Gene: COL5A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 459745
ClinVar RCV Id: RCV000541739 RCV001093164 RCV002456081 RCV002231331
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000384.2:p.Pro1220Ser
CA2021938
NM_000393.5:c.3658C>T