Canonical Allele Identifier: PA645400979
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 284829
ClinVar Variation Id: 476408
ClinVar RCV Id: RCV000546227

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Ala366Thr
CA10070079
NM_001848.3:c.1096G>A
CA658656800
NM_001848.3:c.1095_1096delinsCA