Allele Registry

Canonical Allele Identifier: PA645455092

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

269203

ClinVar RCV:

RCV000367831

RCV000765644

RCV002518954

ClinVar Variation:

284966

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Ile1167Phe	CA10604971 NM_004369.4:c.3499A>T