Canonical Allele Identifier: PA322301
Gene: COL5A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 213131
ClinVar RCV Id: RCV000197839
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000384.2:p.Val1480Leu
CA322300
NM_000393.5:c.4438G>C
CA349854466
NM_000393.5:c.4438G>T