Allele Registry

Canonical Allele Identifier: PA658810493

Gene: COL6A1 HGNC NCBI

ClinVar Allele:

533989

ClinVar RCV:

RCV000653594

RCV002534201

ClinVar Variation:

543001

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.His207Gln	CA321959178 NM_001848.3:c.621C>A CA410518501 NM_001848.3:c.621C>G