Canonical Allele Identifier: PA658666378
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 459697
ClinVar RCV Id: RCV001263364 RCV003159774 RCV001755816 RCV002231689
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265003.1:p.Pro1536Leu
CA5320360
NM_001278074.1:c.4607C>T