Canonical Allele Identifier: PA1139756902
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 951227
ClinVar RCV Id: RCV001223089
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Glu679Lys
CA10072421
NM_058175.3:c.2035G>A