Canonical Allele Identifier: PA2830150482
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 94994
ClinVar RCV Id: RCV000306466 RCV000723496 RCV000813495
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Val2356Ala
CA222658
NM_057167.4:c.7067T>C