Allele Registry

Canonical Allele Identifier: PA2830148946

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

359381

ClinVar RCV:

RCV000413959

RCV000704566

RCV000726933

ClinVar Variation:

373274

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Pro417Ser	CA2189537 NM_057167.4:c.1249C>T