Allele Registry

Canonical Allele Identifier: PA098460

Gene: COL6A1 HGNC NCBI

ClinVar Allele:

198644

ClinVar RCV:

RCV000184024

RCV000731127

ClinVar Variation:

202178

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Pro274Leu	CA275469 NM_001848.3:c.821C>T