Allele Registry

Canonical Allele Identifier: PA2830152299

Gene: COL6A2 HGNC NCBI

ClinVar RCV:

RCV003764644

ClinVar Variation:

36916

HGVS (amino-acid)	Matching Registered Transcripts
NP_478054.2:p.Val619_Ile620del	CA260566 NM_058174.3:c.1856_1861del