Canonical Allele Identifier: PA099387
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 38863
ClinVar RCV Id: RCV000032106 RCV000174444 RCV000349789 RCV000587214 RCV000659443 RCV001507191 RCV002269821 RCV002277113 RCV002313725 RCV002490441
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000084.3:p.Gly530Ser
CA302741
NM_000093.5:c.1588G>A