Canonical Allele Identifier: PA916054484
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 497384
ClinVar RCV Id: RCV000592435 RCV000690561
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Gly588Ser
CA10072170
NM_058175.3:c.1762G>A