Allele Registry

Canonical Allele Identifier: PA2830147543

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

191040

ClinVar RCV:

RCV000174099

RCV000547737

RCV000765642

ClinVar Variation:

193877

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Ile1174Val	CA239566 NM_057166.5:c.3520A>G