Canonical Allele Identifier: PA2830145916
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 335140
ClinVar RCV Id: RCV000404863 RCV000730387 RCV001087014
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476506.3:p.Ser315Leu
CA2189596
NM_057165.5:c.944C>T