Allele Registry

Canonical Allele Identifier: PA222670

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000081012

RCV000653661

RCV001141966

RCV001818246

ClinVar Variation:

95007

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Asp288Asn	CA222668 NM_004369.4:c.862G>A