Allele Registry

Canonical Allele Identifier: PA242696

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000724744

RCV000794513

RCV003488427

ClinVar Variation:

195970

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Pro2250Leu	CA242694 NM_004369.4:c.6749C>T