Allele Registry

Canonical Allele Identifier: PA645400984

Gene: COL6A1 HGNC NCBI

ClinVar RCV:

RCV000414276

ClinVar Variation:

372826

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Ala378Pro	CA16043157 NM_001848.3:c.1132G>C