Allele Registry

Canonical Allele Identifier: PA916054612

Gene: COL6A2 HGNC NCBI

ClinVar Allele:

272685

ClinVar RCV:

RCV000397775

RCV000685619

ClinVar Variation:

288448

HGVS (amino-acid)	Matching Registered Transcripts
NP_478055.2:p.Arg724Leu	CA10072458 NM_058175.3:c.2171G>T