Canonical Allele Identifier: PA2580501695
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2469978

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Asp678Asn
CA10072419
NM_058175.3:c.2032G>A