Allele Registry

Canonical Allele Identifier: PA147905

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

100803

ClinVar RCV:

RCV000080908

RCV000334177

RCV000658903

RCV001083886

ClinVar Variation:

94903

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Leu411Val	CA147903 NM_004369.4:c.1231C>G