Allele Registry

Canonical Allele Identifier: PA645433532

Gene: COL6A2 HGNC NCBI

ClinVar Allele:

272171

ClinVar RCV:

RCV000357521

RCV000778643

RCV001059137

RCV003338507

ClinVar Variation:

287934

HGVS (amino-acid)	Matching Registered Transcripts
NP_001840.3:p.Arg830Trp	CA10072904 NM_001849.4:c.2488C>T