Allele Registry

Canonical Allele Identifier: PA645400931

Gene: COL6A1 HGNC NCBI

ClinVar RCV:

RCV000319412

RCV000794729

RCV002519102

ClinVar Variation:

281934

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Tyr339His	CA10070036 NM_001848.3:c.1015T>C