Allele Registry

Canonical Allele Identifier: PA645434372

Gene: COL6A2 HGNC NCBI

ClinVar Allele:

273832

ClinVar RCV:

RCV000264028

RCV000706105

RCV004535434

ClinVar Variation:

289595

HGVS (amino-acid)	Matching Registered Transcripts
NP_001840.3:p.Val877Met	CA10072957 NM_001849.4:c.2629G>A