Canonical Allele Identifier: PA2573193493
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1390234
ClinVar RCV Id: RCV001890898
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265003.1:p.Tyr1781_Ile1782insAspAsn
CA2573144157
NM_001278074.1:c.5342_5343insTGACAA