Allele Registry

Canonical Allele Identifier: PA2830149863

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

274427

ClinVar RCV:

RCV000267601

RCV000347436

RCV000792240

ClinVar Variation:

290190

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Leu1618Phe	CA2188665 NM_057167.4:c.4852C>T