Allele Registry

Canonical Allele Identifier: PA320548

Gene: COL5A1 HGNC NCBI

ClinVar RCV:

RCV000196128

RCV000408358

RCV000634643

RCV001537856

RCV002315540

RCV003401062

ClinVar Variation:

212937

HGVS (amino-acid)	Matching Registered Transcripts
NP_000084.3:p.Ala546Val	CA320547 NM_000093.5:c.1637C>T