Allele Registry

Canonical Allele Identifier: PA645434443

Gene: COL6A2 HGNC NCBI

ClinVar Allele:

272651

ClinVar RCV:

RCV000265744

RCV000705599

ClinVar Variation:

288414

HGVS (amino-acid)	Matching Registered Transcripts
NP_001840.3:p.Val917Met	CA10073004 NM_001849.4:c.2749G>A