Allele Registry

Canonical Allele Identifier: PA221769

Gene: COL6A1 HGNC NCBI

ClinVar Allele:

99751

ClinVar RCV:

RCV000079786

RCV000383575

RCV000794035

ClinVar Variation:

93849

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Arg731Cys	CA221767 NM_001848.3:c.2191C>T