Allele Registry

Canonical Allele Identifier: PA2830147652

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

518052

ClinVar RCV:

RCV000653513

RCV002536303

RCV003144450

ClinVar Variation:

542964

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Pro1290Leu	CA2188604 NM_057166.5:c.3869C>T