Canonical Allele Identifier: PA916054269
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 285962
ClinVar RCV Id: RCV000320945
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Gly289Cys
CA10605315
NM_058175.3:c.865G>T