Canonical Allele Identifier: PA658810855
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 497152
ClinVar RCV Id: RCV000598499
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Gly525Arg
CA410533968
NM_001849.4:c.1573G>A
CA410533970
NM_001849.4:c.1573G>C