Canonical Allele Identifier: PA916054510
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 597053
ClinVar RCV Id: RCV000733067 RCV003768230
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Val619Ile
CA10072312
NM_058175.3:c.1855G>A