Canonical Allele Identifier: PA094119
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 94934
ClinVar RCV Id: RCV000080939 RCV000558864 RCV001082187 RCV001143351
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Asn1467Asp
CA222606
NM_004369.4:c.4399A>G