Allele Registry

Canonical Allele Identifier: PA239568

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

191040

ClinVar RCV:

RCV000174099

RCV000547737

RCV000765642

ClinVar Variation:

193877

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Ile1781Val	CA239566 NM_004369.4:c.5341A>G