Canonical Allele Identifier: PA2829328802
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2870707
ClinVar RCV Id: RCV003632302

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Phe671Leu
CA410539783
NM_001849.4:c.2011T>C
CA410539805
NM_001849.4:c.2013T>A
CA410539809
NM_001849.4:c.2013T>G