Allele Registry

Canonical Allele Identifier: PA658810530

Gene: COL6A1 HGNC NCBI

ClinVar RCV:

RCV000624350

RCV000689918

ClinVar Variation:

520716

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Gly275Val	CA410521483 NM_001848.3:c.824G>T