Allele Registry

Canonical Allele Identifier: PA645455548

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

270259

ClinVar RCV:

RCV000361739

RCV001142818

RCV001228671

RCV004021189

ClinVar Variation:

286022

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Pro3132Ser	CA2187278 NM_004369.4:c.9394C>T