Canonical Allele Identifier: PA916054409
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 288863
ClinVar RCV Id: RCV000349190 RCV000794402
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Pro449Arg
CA10606252
NM_058175.3:c.1346C>G