Canonical Allele Identifier: PA916054383
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 285233
ClinVar RCV Id: RCV000314635 RCV000653674 RCV002274976 RCV004543063
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Arg377Cys
CA10071715
NM_058175.3:c.1129C>T