Canonical Allele Identifier: PA645455400
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 289097
ClinVar RCV Id: RCV000284088 RCV001224918 RCV004021269
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Ser1882Leu
CA2188617
NM_004369.4:c.5645C>T