Allele Registry

Canonical Allele Identifier: PA042769

Gene: COL6A2 HGNC NCBI

ClinVar RCV:

RCV000597570

RCV000801298

ClinVar Variation:

242692

HGVS (amino-acid)	Matching Registered Transcripts
NP_001840.3:p.Arg843Trp	CA042716 NM_001849.4:c.2527C>T