Canonical Allele Identifier: PA245568
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 197435
ClinVar RCV Id: RCV000178463 RCV001064901 RCV004553007
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Asp3021His
CA245566
NM_004369.4:c.9061G>C