Canonical Allele Identifier: PA913196942
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_001840.3:p.Val619Ile
CA10072312
NM_001849.4:c.1855G>A