Allele Registry

Canonical Allele Identifier: PA2830145816

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

272638

ClinVar RCV:

RCV000327015

RCV000349130

RCV003517176

ClinVar Variation:

288401

HGVS (amino-acid)	Matching Registered Transcripts
NP_476506.3:p.Pro197Leu	CA2189684 NM_057165.5:c.590C>T