Canonical Allele Identifier: PA645433418
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 285726
ClinVar RCV Id: RCV000363352 RCV000653539 RCV001141703
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Glu695Lys
CA10072438
NM_001849.4:c.2083G>A