Allele Registry

Canonical Allele Identifier: PA2830145396

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

172217

ClinVar RCV:

RCV000247969

RCV000515295

RCV000653501

RCV000724543

RCV001139121

ClinVar Variation:

162547

HGVS (amino-acid)	Matching Registered Transcripts
NP_476505.3:p.Lys607Glu	CA247184 NM_057164.5:c.1819A>G