Canonical Allele Identifier: PA221782
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 93863
ClinVar RCV Id: RCV000252293 RCV000271407 RCV000531637 RCV000997844
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Thr881Met
CA221780
NM_001848.3:c.2642C>T