Allele Registry

Canonical Allele Identifier: PA916054599

Gene: COL6A2 HGNC NCBI

ClinVar Allele:

351920

ClinVar RCV:

RCV000346561

RCV000387074

RCV000808997

ClinVar Variation:

340372

HGVS (amino-acid)	Matching Registered Transcripts
NP_478055.2:p.Asp712Tyr	CA10653709 NM_058175.3:c.2134G>T