Allele Registry

Canonical Allele Identifier: PA239828

Gene: COL6A2 HGNC NCBI

ClinVar Allele:

191204

ClinVar RCV:

RCV000174304

RCV000300853

RCV000353406

RCV000762045

RCV001086194

RCV004539608

ClinVar Variation:

194041

HGVS (amino-acid)	Matching Registered Transcripts
NP_001840.3:p.Pro357Arg	CA239826 NM_001849.4:c.1070C>G