Allele Registry

Canonical Allele Identifier: PA645433457

Gene: COL6A2 HGNC NCBI

ClinVar RCV:

RCV000330502

RCV001850446

ClinVar Variation:

289341

HGVS (amino-acid)	Matching Registered Transcripts
NP_001840.3:p.Arg745Trp	CA10072475 NM_001849.4:c.2233C>T