Allele Registry

Canonical Allele Identifier: PA2830146002

Gene: COL6A3 HGNC NCBI

ClinVar Variation Id: 373274

HGVS (amino-acid)	Matching Registered Transcripts
NP_476506.3:p.Pro417Ser	CA2189537 NM_057165.5:c.1249C>T