Allele Registry

Canonical Allele Identifier: PA2830148602

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV001974732

ClinVar Variation:

1436317

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Pro2475Leu	CA2187317 NM_057166.5:c.7424C>T