Allele Registry

Canonical Allele Identifier: PA208219

Gene: COL6A2 HGNC NCBI

ClinVar RCV:

RCV000194202

RCV000266193

RCV000546019

RCV002227456

ClinVar Variation:

210748

HGVS (amino-acid)	Matching Registered Transcripts
NP_001840.3:p.Ala878Val	CA208217 NM_001849.4:c.2633C>T