Canonical Allele Identifier: PA324631
Gene: COL5A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 213132
ClinVar RCV Id: RCV000200071 RCV002311047 RCV002229098
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000384.2:p.Gly1484Asp
CA324630
NM_000393.5:c.4451G>A