Canonical Allele Identifier: PA2741817834
Gene: COL5A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2757615
ClinVar RCV Id: RCV003593841
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000384.2:p.Leu1078Val
CA349862699
NM_000393.5:c.3232C>G