Canonical Allele Identifier: PA2825063247
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 523327
ClinVar RCV Id: RCV000626599 RCV001509381 RCV003758893
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000084.3:p.Glu1772Lys
CA375460830
NM_000093.5:c.5314G>A