Allele Registry

Canonical Allele Identifier: PA645400600

Gene: COL6A1 HGNC NCBI

ClinVar RCV:

RCV000481388

RCV001476375

ClinVar Variation:

418910

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Arg110His	CA10069528 NM_001848.3:c.329G>A