Allele Registry

Canonical Allele Identifier: PA221779

Gene: COL6A1 HGNC NCBI

ClinVar Allele:

99764

ClinVar RCV:

RCV000653571

RCV000723506

RCV000764265

ClinVar Variation:

93862

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Arg872Trp	CA221777 NM_001848.3:c.2614C>T