Allele Registry

Canonical Allele Identifier: PA2830147126

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

269203

ClinVar RCV:

RCV000367831

RCV000765644

RCV002518954

ClinVar Variation:

284966

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Ile560Phe	CA10604971 NM_057166.5:c.1678A>T