Canonical Allele Identifier: PA645433697
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 340381

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Thr864Met
CA10072940
NM_001849.4:c.2591C>T