Allele Registry

Canonical Allele Identifier: PA2830147780

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000723513

RCV001055334

RCV001206994

ClinVar Variation:

94954

937877

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Lys1445Asn	CA222633 NM_057166.5:c.4335G>C CA351217638 NM_057166.5:c.4335G>T