Canonical Allele Identifier: PA916054454
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 497152
ClinVar RCV Id: RCV000598499

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Gly525Arg
CA410533968
NM_058175.3:c.1573G>A
CA410533970
NM_058175.3:c.1573G>C