Allele Registry

Canonical Allele Identifier: PA916054621

Gene: COL6A2 HGNC NCBI

ClinVar RCV:

RCV000330502

RCV001850446

ClinVar Variation:

289341

HGVS (amino-acid)	Matching Registered Transcripts
NP_478055.2:p.Arg745Trp	CA10072475 NM_058175.3:c.2233C>T