Allele Registry

Canonical Allele Identifier: PA233837

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

177080

ClinVar RCV:

RCV000487673

RCV000528795

RCV001141518

ClinVar Variation:

166943

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Arg1504Trp	CA233835 NM_004369.4:c.4510C>T