Allele Registry

Canonical Allele Identifier: PA2830148480

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000592270

RCV001325100

ClinVar Variation:

498115

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Pro2325Ser	CA67830560 NM_057166.5:c.6973C>T