Canonical Allele Identifier: PA2829328820
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2469978

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Asp678Asn
CA10072419
NM_001849.4:c.2032G>A