Allele Registry

Canonical Allele Identifier: PA916054444

Gene: COL6A2 HGNC NCBI

ClinVar RCV:

RCV000731026

ClinVar Variation:

162542

HGVS (amino-acid)	Matching Registered Transcripts
NP_478055.2:p.Gly511Ser	CA295293 NM_058175.3:c.1531G>A