Canonical Allele Identifier: PA916009869
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 653937
ClinVar RCV Id: RCV001759559 RCV002234773
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265003.1:p.Tyr1776His
CA5320689
NM_001278074.1:c.5326T>C