Allele Registry

Canonical Allele Identifier: PA658810704

Gene: COL6A1 HGNC NCBI

ClinVar RCV:

RCV000592371

RCV001294288

ClinVar Variation:

499547

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Ala950Thr	CA10071050 NM_001848.3:c.2848G>A