Canonical Allele Identifier: PA2830150803
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 432246
ClinVar RCV Id: RCV000498060

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Pro2771Leu
CA351190988
NM_057167.4:c.8312C>T