Canonical Allele Identifier: PA1139686346
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 962500
ClinVar RCV Id: RCV002241611
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265003.1:p.Ala553Thr
CA5318885
NM_001278074.1:c.1657G>A