Canonical Allele Identifier: PA246682
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 198168
ClinVar RCV Id: RCV000179436 RCV000653600
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Pro815His
CA246680
NM_004369.4:c.2444C>A