Allele Registry

Canonical Allele Identifier: PA257734

Gene: COL6A1 HGNC NCBI

ClinVar RCV:

RCV000018709

ClinVar Variation:

17169

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Gly526Val	CA257732 NM_001848.3:c.1577G>T