Canonical Allele Identifier: PA645432752
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 285631
ClinVar RCV Id: RCV000398769
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Thr5Ile
CA10605186
NM_001849.4:c.14C>T