Canonical Allele Identifier: PA658672351
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 476515
ClinVar RCV Id: RCV000538546 RCV001358776 RCV002526736 RCV003144372
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Ala991Val
CA2189278
NM_004369.4:c.2972C>T