Allele Registry

Canonical Allele Identifier: PA645400883

Gene: COL6A1 HGNC NCBI

ClinVar Allele:

337074

ClinVar RCV:

RCV000295751

RCV000595689

RCV001861185

ClinVar Variation:

340309

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Pro265Leu	CA10069754 NM_001848.3:c.794C>T