Allele Registry

Canonical Allele Identifier: PA2829328580

Gene: COL6A2 HGNC NCBI

ClinVar RCV:

RCV001925565

ClinVar Variation:

1412838

HGVS (amino-acid)	Matching Registered Transcripts
NP_001840.3:p.Thr590Lys	CA10072176 NM_001849.4:c.1769C>A