Allele Registry

Canonical Allele Identifier: PA658817747

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000598360

RCV000806184

ClinVar Variation:

499875

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Arg2459Gln	CA2187813 NM_004369.4:c.7376G>A