Allele Registry

Canonical Allele Identifier: PA658817621

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000591152

RCV001419741

ClinVar Variation:

501925

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Asp1555Asn	CA2188847 NM_004369.4:c.4663G>A