Canonical Allele Identifier: PA2825060540
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 365704
ClinVar RCV Id: RCV000305176 RCV000458222 RCV001718788 RCV002314089 RCV002230718
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000084.3:p.Leu13Phe
CA5318179
NM_000093.5:c.37C>T