Canonical Allele Identifier: PA645500549
Gene: COL5A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 408280
ClinVar RCV Id: RCV000519249 RCV002230347 RCV002279230 RCV004022683
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000384.2:p.Gln1307Glu
CA2021894
NM_000393.5:c.3919C>G