Allele Registry

Canonical Allele Identifier: PA645400922

Gene: COL6A1 HGNC NCBI

ClinVar RCV:

RCV000435018

ClinVar Variation:

379510

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Lys319Asn	CA16608092 NM_001848.3:c.957G>T CA410522542 NM_001848.3:c.957G>C