Allele Registry

Canonical Allele Identifier: PA2830149972

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

273883

ClinVar RCV:

RCV000315447

RCV000765641

RCV001451134

ClinVar Variation:

289646

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Pro1736Leu	CA2188573 NM_057167.4:c.5207C>T