Allele Registry

Canonical Allele Identifier: PA645400795

Gene: COL6A1 HGNC NCBI

ClinVar Allele:

265526

ClinVar RCV:

RCV000379667

RCV000819388

RCV003401233

ClinVar Variation:

281289

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Arg222His	CA10069645 NM_001848.3:c.665G>A