Canonical Allele Identifier: PA658663170
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 476493
ClinVar RCV Id: RCV000533493

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Gly271Val
CA410524658
NM_001849.4:c.812G>T