Allele Registry

Canonical Allele Identifier: PA2830146645

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

270397

ClinVar RCV:

RCV000353475

RCV000625838

RCV003338503

ClinVar Variation:

286160

HGVS (amino-acid)	Matching Registered Transcripts
NP_476506.3:p.Asp1168Val	CA2188989 NM_057165.5:c.3503A>T