Allele Registry

Canonical Allele Identifier: PA645434671

Gene: COL6A2 HGNC NCBI

ClinVar Allele:

269706

ClinVar RCV:

RCV000725669

RCV001055469

RCV002518968

ClinVar Variation:

285469

HGVS (amino-acid)	Matching Registered Transcripts
NP_001840.3:p.Lys1000Glu	CA10073133 NM_001849.4:c.2998A>G