Allele Registry

Canonical Allele Identifier: PA658810935

Gene: COL6A2 HGNC NCBI

ClinVar Allele:

493258

ClinVar RCV:

RCV000595928

RCV000653574

RCV002531095

RCV004530714

ClinVar Variation:

501834

HGVS (amino-acid)	Matching Registered Transcripts
NP_001840.3:p.Val804Ile	CA10072553 NM_001849.4:c.2410G>A