Allele Registry

Canonical Allele Identifier: PA658659282

Gene: COL6A1 HGNC NCBI

ClinVar Allele:

471258

ClinVar RCV:

RCV000557620

ClinVar Variation:

476441

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Gly290Trp	CA410521749 NM_001848.3:c.868G>T