Allele Registry

Canonical Allele Identifier: PA645455517

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000707162

RCV000726172

ClinVar Variation:

288504

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Ala2915Val	CA2187451 NM_004369.4:c.8744C>T