Allele Registry

Canonical Allele Identifier: PA658663350

Gene: COL6A2 HGNC NCBI

ClinVar RCV:

RCV000556569

RCV000660619

RCV000733635

ClinVar Variation:

476480

HGVS (amino-acid)	Matching Registered Transcripts
NP_001840.3:p.Leu976Ser	CA10073100 NM_001849.4:c.2927T>C