Allele Registry

Canonical Allele Identifier: PA2573168662

Gene: COL5A2 HGNC NCBI

ClinVar RCV:

RCV001949768

ClinVar Variation:

1426590

HGVS (amino-acid)	Matching Registered Transcripts
NP_000384.2:p.Thr1388Ser	CA2021833 NM_000393.5:c.4163C>G CA349855199 NM_000393.5:c.4162A>T