Canonical Allele Identifier: PA2829328364
Gene: COL6A2 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Arg489Gly
CA410531926
NM_001849.4:c.1465C>G