Allele Registry

Canonical Allele Identifier: PA916053413

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

413594

ClinVar RCV:

RCV000487720

RCV000821173

RCV001731716

ClinVar Variation:

425260

HGVS (amino-acid)	Matching Registered Transcripts
NP_476505.3:p.Leu816Pro	CA2189121 NM_057164.5:c.2447T>C