Allele Registry

Canonical Allele Identifier: PA2573295375

Gene: COL6A2 HGNC NCBI

ClinVar RCV:

RCV001925565

ClinVar Variation:

1412838

HGVS (amino-acid)	Matching Registered Transcripts
NP_478055.2:p.Thr590Lys	CA10072176 NM_058175.3:c.1769C>A