Canonical Allele Identifier: PA645500407
Gene: COL5A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 423881
ClinVar RCV Id: RCV000483758 RCV002230959
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000384.2:p.Gly990Arg
CA16617397
NM_000393.5:c.2968G>A
CA349867118
NM_000393.5:c.2968G>C