Allele Registry

Canonical Allele Identifier: PA248095

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000249892

RCV000653662

RCV001711471

RCV002516823

ClinVar Variation:

199091

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Thr1406Met	CA248093 NM_004369.4:c.4217C>T