Allele Registry

Canonical Allele Identifier: PA2830147582

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

274427

ClinVar RCV:

RCV000267601

RCV000347436

RCV000792240

ClinVar Variation:

290190

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Leu1217Phe	CA2188665 NM_057166.5:c.3649C>T