Allele Registry

Canonical Allele Identifier: PA645455025

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

271679

ClinVar RCV:

RCV000284694

RCV002521973

ClinVar Variation:

287442

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Ser647Thr	CA2189510 NM_004369.4:c.1939T>A