Allele Registry

Canonical Allele Identifier: PA2830152302

Gene: COL6A2 HGNC NCBI

ClinVar RCV:

RCV001378718

ClinVar Variation:

1067448

HGVS (amino-acid)	Matching Registered Transcripts
NP_478054.2:p.Asp621His	CA410538510 NM_058174.3:c.1861G>C