Canonical Allele Identifier: PA320549
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 212937
ClinVar RCV Id: RCV000196128 RCV000408358 RCV000634643 RCV001537856 RCV002315540 RCV003401062
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265003.1:p.Ala546Val
CA320547
NM_001278074.1:c.1637C>T