Canonical Allele Identifier: PA891847715
Gene: COL5A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 577525
ClinVar RCV Id: RCV002232899
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000384.2:p.Ile127Leu
CA349863956
NM_000393.5:c.379A>T
CA349863960
NM_000393.5:c.379A>C