Allele Registry

Canonical Allele Identifier: PA2830152567

Gene: COL6A2 HGNC NCBI

ClinVar RCV:

RCV000548374

RCV003258877

ClinVar Variation:

476468

HGVS (amino-acid)	Matching Registered Transcripts
NP_478054.2:p.Asp803Asn	CA10072551 NM_058174.3:c.2407G>A