Canonical Allele Identifier: PA2580501637
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2269596
ClinVar RCV Id: RCV002799435

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Cys607Tyr
CA410538362
NM_058175.3:c.1820G>A