Allele Registry

Canonical Allele Identifier: PA645454720

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

272638

ClinVar RCV:

RCV000327015

RCV000349130

RCV003517176

ClinVar Variation:

288401

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Pro403Leu	CA2189684 NM_004369.4:c.1208C>T