Allele Registry

Canonical Allele Identifier: PA215983

Gene: COL6A1 HGNC NCBI

ClinVar RCV:

RCV000050243

RCV000360603

RCV000723507

RCV001083967

ClinVar Variation:

56905

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Val117Ala	CA215981 NM_001848.3:c.350T>C