Allele Registry

Canonical Allele Identifier: PA245533

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

194577

ClinVar RCV:

RCV000178441

RCV000286598

RCV000557223

RCV002516774

ClinVar Variation:

197416

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Thr2940Met	CA245531 NM_004369.4:c.8819C>T