Allele Registry

Canonical Allele Identifier: PA645455498

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000267267

RCV000287956

RCV000701627

ClinVar Variation:

285058

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Pro2748Leu	CA2187592 NM_004369.4:c.8243C>T