Allele Registry

Canonical Allele Identifier: PA658810868

Gene: COL6A2 HGNC NCBI

ClinVar Allele:

534541

ClinVar RCV:

RCV000653503

RCV003144449

ClinVar Variation:

542955

HGVS (amino-acid)	Matching Registered Transcripts
NP_001840.3:p.Val598Met	CA10072217 NM_001849.4:c.1792G>A