Canonical Allele Identifier: PA2830145805
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 197233
ClinVar RCV Id: RCV000724219 RCV000822172 RCV001818436 RCV002516769
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476506.3:p.Ala178Thr
CA245244
NM_057165.5:c.532G>A