Allele Registry

Canonical Allele Identifier: PA658817665

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

518052

ClinVar RCV:

RCV000653513

RCV002536303

RCV003144450

ClinVar Variation:

542964

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Pro1897Leu	CA2188604 NM_004369.4:c.5690C>T