Allele Registry

Canonical Allele Identifier: PA645401263

Gene: COL6A1 HGNC NCBI

ClinVar RCV:

RCV000362356

RCV002518094

ClinVar Variation:

289634

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Val876Met	CA10070984 NM_001848.3:c.2626G>A