Canonical Allele Identifier: PA2499244827
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1010441
ClinVar RCV Id: RCV002241886

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265003.1:p.Pro391Leu
CA5318670
NM_001278074.1:c.1172C>T