Allele Registry

Canonical Allele Identifier: PA645433375

Gene: COL6A2 HGNC NCBI

ClinVar RCV:

RCV000343057

RCV001325819

ClinVar Variation:

290313

HGVS (amino-acid)	Matching Registered Transcripts
NP_001840.3:p.Pro568Ser	CA10072121 NM_001849.4:c.1702C>T