Allele Registry

Canonical Allele Identifier: PA2830150802

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000596369

RCV001234893

ClinVar Variation:

500213

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Ala2769Val	CA2187412 NM_057167.4:c.8306C>T