Allele Registry

Canonical Allele Identifier: PA222635

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000723513

RCV001055334

RCV001206994

ClinVar Variation:

94954

937877

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Lys2052Asn	CA222633 NM_004369.4:c.6156G>C CA351217638 NM_004369.4:c.6156G>T