Canonical Allele Identifier: PA645455043
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 282673
ClinVar RCV Id: RCV000382434 RCV001136988 RCV003517165
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Gln754Arg
CA2189440
NM_004369.4:c.2261A>G