Canonical Allele Identifier: PA658666547
Gene: COL5A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 450714
ClinVar RCV Id: RCV000522811
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000384.2:p.Ala643Val
CA2022514
NM_000393.5:c.1928C>T